Gene is encodes a mitochondrial protein. Medical search. Frequent questions

This protein is active in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. (medlineplus.gov)
The LETM1 protein may be involved in the transport of charged calcium atoms (calcium ions) across membranes within mitochondria. (medlineplus.gov)
Researchers suspect that the protein also plays a role in determining the shape and volume of mitochondria. (medlineplus.gov)
In this review, we summarized the mechanism of mitochondrial transfer in the cardiovascular system and outlined the fate and functional role of donor mitochondria. (frontiersin.org)
Mitochondria not only serve as power plants in cells but also act as crucial regulators in many biological processes, including reactive oxygen species (ROS) signaling, redox balance, calcium homeostasis, protein quality control, and programmed cell death ( 3 , 4 ). (frontiersin.org)
The main obstacle is because many protein components of mitochondria are the network hubs of multiple biological pathways. (frontiersin.org)
Given the complexity of the biological function of mitochondria, researchers have begun to consider rescuing the injured cells through mitochondrial transfer, that is, replacing damaged mitochondria with healthy mitochondria from donor cells. (frontiersin.org)
The mitochondrial products synthesized by this genome, both RNAs and proteins, are similar to those produced by the mammalian mitochondria. (jrank.org)
Taken together, our data reveal how these ribosome receptors organize membrane protein biogenesis in mitochondria. (molbiolcell.org)
One sod1Delta suppressor represents SSQ1 which encodes a hsp70-type molecular chaperone found in the mitochondria. (nih.gov)
Mitochondria are under dual genetic control of the mitochondrial and nuclear genomes. (springer.com)
The remaining mitochondrial proteins, including the majority of respiratory chain subunits (79 out of 92), assembly factors of the respiratory chain, those involved in maintenance and expression of mtDNA, mtDNA transcription and translation, and control the mitochondrial dynamics are nuclear encoded [ 16 ], synthesised in the cytosol and imported to the mitochondria [ 51 ]. (springer.com)
Turning off some genes, like HSPAI1L, inhibits parkin (green) from tagging damaged mitochondria (red). (nih.gov)
Some cases of Parkinson's disease have been linked to mutations in the gene that codes for parkin, a protein that cells use to tag damaged mitochondria as waste. (nih.gov)
A team led by Dr. Richard Youle at NIH's National Institute of Neurological Disorders and Stroke (NINDS) used RNA interference (RNAi) to screen for genes that help parkin tag damaged mitochondria. (nih.gov)
Using automated microscopy, they then examined how silencing each gene affected the ability of parkin to tag mitochondria. (nih.gov)
We discovered a network of genes that may regulate the disposal of dysfunctional mitochondria, opening the door to new drug targets for Parkinson's disease and other disorders," Youle says. (nih.gov)
The protein encoded by this gene is found in both mitochondria and the nucleus, where it binds cysteine desulfurase and helps free inorganic sulfur for Fe/S clusters. (nih.gov)
The encoded protein has been localized to the outer membrane of mitochondria and is thought to play a role in regulation of oxidation. (cancerindex.org)
The mitochondrial protein mitoNEET is a type of iron-sulfur protein localized to the outer membrane of mitochondria and is involved in a variety of human pathologies including cystic fibrosis, diabetes, muscle atrophy, and neurodegeneration. (cancerindex.org)
Taken together, our study suggests that the MiNT protein functions in the same pathway as its homodimeric counterparts (mitoNEET and NAF-1), and could be a key player in this pathway within the mitochondria. (cancerindex.org)
The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. (cancerindex.org)
Mitochondria have their own unique DNA (mtDNA) that encodes 13 essential subunits of electron transport chain enzymes, two ribosomal RNAs and 22 transfer RNAs. (biomedcentral.com)
Impaired mitochondrial biogenesis represents an additional manner in which mitochondria may contribute to acquired disorders. (biomedcentral.com)
3) The DNA is removed from the mitochondrial donor egg leaving behind the healthy mitochondria (green ovals). (discovermagazine.com)
5) The result is an egg that has the nuclear DNA from the mother and mitochondrial DNA from the egg/mitochondria donor, which can then be fertilized with the father's sperm. (discovermagazine.com)
Unlike an organ transplant, the effects of mitochondrial replacement will persist in future generations of offspring if the resulting baby is a female and she chooses to have children - males do not pass on their mitochondria. (discovermagazine.com)
This hypothesis centers on human genes critical for the healthy functioning of mitochondria, the energy factories of the cell, which are riddled with mobile chunks of DNA called Alu elements. (neurodegenerationresearch.eu)
Most mitochondrial proteins are encoded by genes in the cell nucleus before reaching their final destination in mitochondria. (neurodegenerationresearch.eu)
If the Alu copies present within the TOMM40 gene somehow interfere with the path from gene to protein, the scientists could help explain why mitochondria in nerve cells stop working. (neurodegenerationresearch.eu)
The TOMM40 gene encodes a barrel-shaped protein in the outer membrane of mitochondria that forms a channel for molecules - including the precursor to amyloid - to enter. (neurodegenerationresearch.eu)
Interestingly, yeast DJ-1 orthologs preserve functional mitochondrial content, maintain ATP levels, and redistribute into mitochondria to alleviate the glycation damage of macromolecules. (elifesciences.org)
The evidence supporting the role of Hsp31-34 in preventing and repairing damage to mitochondria, proteins and nucleic acids by reactive carbonyl species is convincing. (elifesciences.org)
We will use biochemical and genetic approaches to study the role of the protein of unknown function in the production ROS in chloroplast and potentially mitochondria influencing the expression of nuclear genes. (helsinki.fi)
This protein regulates the movement of citrate across the inner membranes of the mitochondria. (nih.gov)

However, the majority of mitochondrial proteins are encoded by the nuclear genome (Yakes et al . (medscape.com)
The additional information gen- these responses will increase understanding of the molec- erated by whole genome studies goes far beyond that ular mechanisms of pathogenesis, identify new bacterial derived by characterizing in isolation more genes and gene virulence factors, and aid in the design of new vaccines. (cdc.gov)
Animal cells have a genome of approximately 16 kb (kilobases, 1,000 bases) and represent the smallest mitochondrial genomes in eukaryotes. (jrank.org)
Yeast possess a much larger genome that varies among the different strains but is about 80 kb, with the whole yeast mitochondrial DNA making up 18% of the total DNA of the yeast. (jrank.org)
The smallest plant mitochondrial genome is around 100 kb, which make it very difficult to isolate in intact form. (jrank.org)
A special DNA polymerase replicates the mitochondrial genome. (jrank.org)
The mammalian mitochondrial genome is extremely compact with many overlapping genes and no introns. (jrank.org)
This genome codes for 13 essential genes of biochemical pathways (e.g., oxidative phosphorylation), two rRNAs, and 22 tRNAs. (jrank.org)
The yeast mitochondrial genome is much larger, but codes for only eight proteins. (jrank.org)
Because of the relative simplicity of the mitochondrial genome, genetic manipulation has advanced considerably. (jrank.org)
The first humans with half the nuclear genome from one mother and the mitochondrial genome from a donor mother have been delivered and are reported healthy. (jrank.org)
Analyzing sequences of mitochondrial genome regions provides more reliable evidence regarding the genetic diversity and evolutionary origin of the species, due to the high rate of mitochondrial genome evolution compared to the nucleus. (researchgate.net)
After DNA extraction, polymerase chain reaction (PCR) was carried out using specific primers for the targeted mitochondrial genome. (researchgate.net)
targeted mitochondrial genome. (researchgate.net)
The multiple clinical phenotypes and the involvement of both the mitochondrial and nuclear genome make mitochondrial disease particularly challenging for the clinician. (springer.com)
To date, mitochondrial proteomics analysis reveals that in addition to the 13 proteins encoded by the mitochondrial genome, around 1500 proteins [ 50 ] are linked to various mitochondrial functions and so far more than 200 genes have been implicated in the development of human disease [ 40 ]. (springer.com)
The mitochondrial genome consists of multiple copies of 16,569 bp, double stranded mitochondrial DNA (mtDNA) molecules and located adjacent to the OXPHOS system in the matrix. (springer.com)
To our knowledge, this is the first report of a mutation affecting both mitochondrial genome-encoded complex V subunit proteins. (bmj.com)
Mitochondrial genome sequencing should be considered in patients with infantile hypertrophic cardiomyopathy. (bmj.com)
DNA repair is a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encodes its genome . (wikipedia.org)
Our lab is focused on introducing engineered copies of mitochondrial protein-encoding genes into the nuclear genome in order to rescue mutations in the mitochondrial DNA. (sens.org)
This involves inserting the mitochondrial gene coding for the OxPhos protein into the nuclear genome so that it is translated in the cytoplasm. (sens.org)
The most notable drawbacks to the gene therapy in clinical trial for LHON are that vision loss returns after several months and their method of allotopic expression does not permanently integrate the corrected gene in the patient's genome. (sens.org)
If the mitochondrial genome drift results in a significant amount of mutant mtDNA, cells exhibit reduced energy capacity and organs become dysfunctional [ 7 ]. (biomedcentral.com)
Found only in primates, Alus belong to a family of retrotransposons or "jumping genes," which copy and paste themselves in new spots in the genome. (neurodegenerationresearch.eu)
There are "nearly 50,000 acetylated sites [punctate sites of modified histones] in the human genome that correlate with active transcription start sites and CpG islands and tend to cluster within gene-rich loci. (wikiversity.org)

A ) The inner mitochondrial membrane contains five protein complexes (complexes I-V), which constitute the respiratory chain. (medscape.com)
The 18kDa translocator protein (TSPO) ( 1 ) is a five transmembrane domain protein that resides in the outer mitochondrial membrane (OMM), at contact sites between the outer and inner mitochondrial membrane ( 2 ). (biorxiv.org)
This double membrane-bound organelle generates most adenosine triphosphate (ATP) through OXPHOS, processed by ETC embedded in the inner mitochondrial membrane (IMM). (frontiersin.org)
The protein anchors other proteins of the complex to the inner mitochondrial membrane. (mycancergenome.org)

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. (wikipedia.org)
Each mitochondrion has its own DNA (mitochondrial DNA) comprising 37 genes, 22 of which code for tRNA molecules and 2 for mitochondrial rRNA. (medscape.com)
Nuclear genes, however, encode the majority of mitochondrial proteins which are synthesized in the cytosol and then targeted to the mitochondrion. (jrank.org)
The encoded protein by the nuclear gene localized to the mitochondrion. (mitoaction.org)
Remedy of various concentrations of AGEs, HAECs offered extra granular mitochondrion, indicating AGEs promoted mitochondrial fission of HAECs remarkably. (tbdb.org)

Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. (thermofisher.com)
Recessive- types of mutations in MTFMT have been shown to cause mitochondrial disease. (mitoaction.org)
Multiple mtDNA deletions and mtDNA depletion (reduced copy number of mtDNA) are secondary changes in mtDNA due to mutations in the mtDNA replication and/or maintenance genes such as POLG, PEO1, ANT1, DGUOK, TYMP [ 72 ]. (springer.com)
In relating a list of 86 pathogenic mutations in human tRNAs encoded by mitochondrial genes to the sequences of their mammalian orthologs, we noted that 52 pathogenic mutations were present in normal tRNAs of one or several nonhuman mammals. (nature.com)
XLSA is caused by germline mutations in the erythroid-specific ALA synthase gene ( ALAS2 ). (haematologica.org)
Studies submitted under this program announcement are expected to identify and characterize the relevant genes, determine their function in normal human reproduction and reproductive development, identify functional partners or pathways and the nature of the interactions, and further our understanding of the consequences of mutations or dysregulation for human reproductive health. (nih.gov)
Mutations in these genes accumulate with age and can lead to a wide variety of diseases. (sens.org)
Recently, a form of gene therapy that directly addresses mitochondrial DNA mutations has emerged as a therapeutic for mitochondrial diseases. (sens.org)
Scope includes mutations and abnormal protein expression. (cancerindex.org)
CMT3 (also known as Dejerine-Sottas disease) is a rare congenital hypomyelinating neuropathy, which can be an autosomal dominant or a recessive disorder with mutations in several genes, including PMP22 , MPZ , and EGR2 . (msdmanuals.com)
To this end, evaluation of genetic mutations associated with the synucleinopathies has helped to elucidate crucial mechanisms of disease pathogenesis, revealing key roles for lysosomal and mitochondrial dysfunction. (nih.gov)
Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. (nih.gov)

The present study presents information about a possible function for LETM1 and suggests that at least some (neuromuscular) features of WHS may be caused by mitochondrial dysfunction. (nih.gov)
Pathophysiological concept of mitochondrial dysfunction in PSP. (medscape.com)
Reactive oxygen species cause damage to structural proteins including microtubules, neurofilaments and tau, which in turn causes further mitochondrial dysfunction (5), which may lead to loss of physiological function. (medscape.com)
Mitochondrial dysfunction has been proven to play a critical role in the pathogenesis of cardiovascular diseases. (frontiersin.org)
Isoliquiritigenin Induces Mitochondrial Dysfunction and Apoptosis by Inhibiting mitoNEET in a Reactive Oxygen Species-Dependent Manner in A375 Human Melanoma Cells. (cancerindex.org)
Recent studies indicate that mitochondrial dysfunction plays a role in the pathogenesis of a number of disease states. (biomedcentral.com)
These have led us and others to propose intriguing hypotheses regarding the pathogenesis of acquired mitochondrial dysfunction in a variety of disease states. (biomedcentral.com)
One might conclude that loss or failed synthesis of mtDNA is a unifying cause of sepsis-induced mitochondrial dysfunction and that clinicians could use mtDNA copy number to predict mortality during critical illness. (biomedcentral.com)

LOCUS VCU22330 923 bp mRNA PLN 17-JAN-1997 DEFINITION Volvox carteri oxygen-evolving enhancer protein 3 mRNA, complete cds. (bio.net)
LOCUS CSCAB1 1067 bp RNA PLN 21-JAN-1997 DEFINITION C.stellata cab1 mRNA for chlorophyll a/b binding protein. (bio.net)
LOCUS CSCAB2MR 1141 bp RNA PLN 21-JAN-1997 DEFINITION C.stellata cab2 mRNA for light harvesting complex I chlorophyll binding protein. (bio.net)
Most studies have assumed that arsenic-induced changes in mRNA levels result from effects on gene transcription. (nih.gov)
Real-time RT-PCR confirmed a major, significant arsenite-induced stabilization of the mRNA encoding δ aminolevulinate synthase 1 ( ALAS1 ), the rate-limiting enzyme in heme biosynthesis. (nih.gov)
We conclude that arsenite modification of mRNA stability is relatively uncommon, but in some instances can result in significant changes in gene expression. (nih.gov)
IGF2BP2/IMP2-Deficient mice resist obesity through enhanced translation of Ucp1 mRNA and Other mRNAs encoding mitochondrial proteins. (genscript.com)
Messenger RNA (mRNA) encodes the instructions for cells to make proteins in the process of translation. (nih.gov)
Decay is an important part of the mRNA life cycle when specific proteins are no longer needed. (nih.gov)
These findings support an emerging model where regulators of mRNA turnover add another layer of post-transcriptional control of gene expression to direct appropriate responses to environmental changes. (nih.gov)
Actual time PCR technique was used to detect the mRNA expression ranges of mitochondrial dynamics regulatory genes mitofusin 1 ( Mfn1 ), mitofusin 2 (Mfn2), optic atrophy 1 (Opa1), and dynamin-related protein 1 (Drp1) of HAECs, and western blot technique was used to detect the protein expression ranges of those regulatory genes. (tbdb.org)
Completely different concentrations of AGEs down-regulated the mRNA and protein expression of mitochondrial pro-fusional genes Mfn1 , Mfn2, Opa1, up-regulated the expression of mitochondrial pro-fissional gene Drp1, and each of the 2 phosphorylated Drp1 (p-ser-Drp1-616 and p-ser-Drp1-637) have been elevated. (tbdb.org)

The following pnpt1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). (genscript.com)
JN381023.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. (genscript.com)

Sequence analysis identified alternatively spliced variants that encode different protein isoforms. (wikipedia.org)
Two transcript variants encoding distinct isoforms have been identified for this gene. (novusbio.com)
Three transcript variants encoding the same protein have been identified for this gene. (thermofisher.com)
Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. (antibodies-online.com)
Alternative splicing results in multiple transcript variants that encode different protein isoforms. (nih.gov)
Gene-centric analysis implicates nuclear encoded mitochondrial protein gene variants in migraine susceptibility. (cdc.gov)

Impaired expression of genes coding for reactive oxygen species scavenging enzymes in testes of Mtfr1/Chppr-deficient mice. (nih.gov)
C ) The pathophysiological model assumes that mitochondrial neurotoxins, particularly affecting complex I (CX I) of the mitochondrial respiratory chain (1), induce ATP-depletion (2) and production of reactive oxygen species (ROS, 3). (medscape.com)
2006). Reactive oxygen species extract electrons from neighbouring molecules to complete their own orbital, thereby leading to the oxidation of cellular macromolecules including proteins, lipids and DNA (Lenaz et al . (medscape.com)
2006). According to the mitochondrial theory of ageing, random mitochondrial DNA alterations induced by reactive oxygen species cause errors in the proteins of oxidative phosphorylation, leading to bioenergetic deficits, which in turn further increase the production of reactive oxygen species, thereby establishing a vicious cycle (Mecocci et al . (medscape.com)
Structure of the human monomeric NEET protein MiNT and its role in regulating iron and reactive oxygen species in cancer cells. (cancerindex.org)
However, like its counterparts, our biological studies indicate that knockdown of MiNT leads to increased accumulation of mitochondrial labile iron, as well as increased mitochondrial reactive oxygen production. (cancerindex.org)
Therefore, reactive oxygen species produced during oxidative phosphorylation in a variety of disease states can damage mtDNA and mitochondrial proteins. (biomedcentral.com)
Reactive carbonyl species (RCS) such as methylglyoxal and glyoxal are potent glycolytic intermediates that extensively damage cellular biomolecules leading to genetic aberration and protein misfolding. (elifesciences.org)
This paper reports the important discovery of a mechanism of cellular response to the reactive carbonyl species, which in yeast involves Hsp31, Hsp32, Hsp33, and Hsp34, all orthologs of DJ-1 protein, a determinant of Parkinson's disease. (elifesciences.org)
Reactive carbonyl species (RCS) are highly toxic compounds that covalently bind and damage vital cellular components such as protein, DNA, and fatty acids ( Semchyshyn, 2014 ). (elifesciences.org)
Reactive oxygen species (ROS) are produced as a by-product of the electron transport chain in the chloroplast, which can also act as a signal switching on gene expression in the nucleus. (helsinki.fi)

It is one of the most common groups of genetic disease and can be caused by mutation in either mitochondrial DNA or nuclear genes that directly or indirectly interfere with the mitochondrial respiratory chain function. (springer.com)
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. (genscript.com)
9 In fact, sequencing of GLRX5 showed that the patient had a homozygous mutation of this gene. (haematologica.org)
To obtain insight into the functional relevance of this A147T point mutation, we asked how this mutation might impact the protein interactome of TSPO within the mitochondrial complex. (biorxiv.org)
In all four, a novel mitochondrial m.8528T→C mutation was identified. (bmj.com)
The idea is that introducing a version of the gene without the mutation and synthesizing the proteins using the nuclear translation system will rescue lost function and reverse the symptoms of disease. (sens.org)
My project is specifically looking at a mutation in a subunit of the first OxPhos protein complex. (sens.org)
Several labs have already shown that this form of gene therapy works in the context of the LHON mutation and is able to reverse vision loss temporarily. (sens.org)
CMT2A is the most common CMT2 phenotype, most often due to a mutation in the gene that encodes mitochondrial fusion protein mitofusin-2 ( MFN2 ). (msdmanuals.com)

The gene has 3 alternatively spliced transcripts encoding different isoforms. (origene.com)

cytochrome c oxidase subunit I (cox1) gene, mitochondrial gene encoding mitochondrial protein, complete cds. (bio.net)
Like UQCRC1 in preventing cytochrome c from release, functions of ETC proteins beyond oxidative phosphorylation might also contribute to the pathogenesis of PD. (frontiersin.org)

If a chemical compound targeting one of these hubs is used, it can not only modify the anticipated biological pathways but also change other unexpected mitochondrial processes ( 5 ). (frontiersin.org)
Despite the identification of the Y-chromosome gene SRY as the "testis determining factor" almost 15 years ago, the mechanisms and pathways of normal sex differentiation are still not well understood. (nih.gov)
What pathways are this gene/protein implicaed in? (cancerindex.org)

We have shown that LETM1 is evolutionarily conserved throughout the eukaryotic kingdom and exhibits homology to MDM38, a putative yeast protein involved in mitochondrial morphology. (nih.gov)

The mitochondrial ribosomes (mitoribosomes) synthesize, almost exclusively, membrane proteins that are subunits of oxidative phosphorylation complexes. (molbiolcell.org)
The oxidative phosphorylation system (OXPHOS) is located in the inner membrane and it consists of five multimeric protein complexes: complex I-IV form the respiratory chain and complex V (ATP synthase). (springer.com)
The structural subunits of the electron transport complexes and other mitochondrial proteins arise from nuclear genes [ 8 ]. (biomedcentral.com)
Thus, expression of the genes encoding mitochondrial enzyme complexes is under dual control. (biomedcentral.com)
We have recently identified potential intermediate proteins of this signalling pathway, which we will investigate further through isolating chloroplast complexes involving the unknown protein from plants. (helsinki.fi)

The protein encoded by this gene may induce mitochondrial biogenesis and attenuate catecholamine signaling in adipose tissue. (nih.gov)
Deficient mitochondrial biogenesis in critical illness: cause, effect, or epiphenomenon? (biomedcentral.com)
Biogenesis includes all of the processes needed for mitochondrial homeostasis and division. (biomedcentral.com)
In the recovery phase, mitochondrial biogenesis restored mtDNA copy number and oxidative metabolism. (biomedcentral.com)

While the iron of ferritin sideroblasts is stored in cytosolic ferritin, whose subunits are encoded by the FTH1 and FTL genes, the iron of ring sideroblasts is stored in mitochondrial ferritin, encoded by the FTMT gene. (haematologica.org)
Disruption of this gene negatively impacts mitochondrial and cytosolic iron homeostasis. (nih.gov)
Interestingly, as shown by molecular dynamics simulation, the protein displays distinct asymmetrical backbone motions, unlike its homodimeric counterparts that face the cytosolic side of the outer mitochondrial membrane/endoplasmic reticulum (ER). (cancerindex.org)
Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. (cancerindex.org)

2001). "Structural compensation for the deficit of rRNA with proteins in the mammalian mitochondrial ribosome. (wikipedia.org)
The complete sequencing and mapping of several mammalian mitochondrial genomes show extensive similarity in organization. (jrank.org)
The introns in some are so large that their size is almost as large as the whole mammalian mitochondrial DNA. (jrank.org)
Here, we systematically analyzed the mechanisms of intramolecular compensation in the evolution of mammalian mitochondrial tRNAs. (nature.com)
b ) Selected nonprimate mammalian gene encoding tRNA Leu (UUR) . (nature.com)

Membrane insertion occurs cotranslationally on membrane-bound mitochondrial ribosomes. (molbiolcell.org)
Here, by employing a systematic mass spectrometry-based approach, we discovered the previously uncharacterized membrane protein Mrx15 that interacts via a soluble C-terminal domain with the large ribosomal subunit. (molbiolcell.org)
The translocase of outer mitochondrial membrane 40 ( TOMM40 ) '523' polymorphism has previously been associated with age of Alzheimer's disease onset and cognitive functioning in non-pathological ageing, but has not been explored as a candidate risk marker for cognitive decline in Parkinson's disease (PD). (researchgate.net)
This gene encodes a member of a family of proteins that translocate small metabolites across the mitochondrial membrane. (antikoerper-online.de)
Confirming that A147T polymorphism of the TSPO might confer loss of function, we found that one of the identified interactors of WT TSPO, 14-3-3 theta (YWHAQ), a protein involved in regulating mitochondrial membrane proteins, interacts much less with A147T TSPO. (biorxiv.org)
Succinate dehydrogenase complex, subunit C, integral membrane protein (SDHC) is a gene that encodes a protein that is a component of succinate dehydrogenase. (mycancergenome.org)
Thylakoid membranes in chloroplasts are the location for the light-dependent reaction of photosynthesis, the electron transport chain (ETC). We study a protein of unknown function, which is localised at the thylakoid membrane and appears to be necessary for the regulation of ETC under starvation conditions. (helsinki.fi)
Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. (nih.gov)

A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. (nih.gov)
Chondrocyte protein with a poly-proline region (CHPPR) is a novel mitochondrial protein and promotes mitochondrial fission. (nih.gov)
Advanced glycation end products influence mitochondrial fusion-fission dynamics through RAGE in human aortic endothelial cells. (tbdb.org)
Silencing PINK1 induced mitochondrial fission in HAECs, and AGEs additional promoted mitochondrial fragmentation in HAECs of PINK1 silenced. (tbdb.org)
Blocking RAGE with anti-RAGE inhibited AGEs induced mitochondrial fission and reversed AGEs induced expression adjustments of mitochondrial regulatory genes Drp1, Mfn1 , Mfn2, and Opa1, indicating AGEs induced mitochondrial fission by way of RAGE in HAECs. (tbdb.org)
In conclusion, AGEs might promote mitochondrial fission of HAECs by way of its receptor RAGE, silencing PINK1 induces mitochondrial fission, and AGEs additional promote mitochondrial fragmentation in HAECs of PINK1 silenced. (tbdb.org)

The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome. (medlineplus.gov)
Studies have shown that cell-to-cell mitochondrial transfer plays an essential role in regulating cardiovascular system development and maintaining normal tissue homeostasis under physiological conditions. (frontiersin.org)
The method of mitophagy might prohibit inflammatory cytokine secretion and immediately regulate mitochondrial antigen presentation and immune cell homeostasis. (tbdb.org)

The leucine zipper-, EF-hand-containing transmembrane protein 1 (LETM1) has recently been cloned in an attempt to identify genes deleted in Wolf-Hirschhorn syndrome (WHS), a microdeletion syndrome characterized by severe growth and mental retardation, hypotonia, seizures, and typical facial dysmorphic features. (nih.gov)
Extracellular glucose level regulates dependence on GRP78 for cell surface localization of multipass transmembrane proteins in HeLa cells. (researchmap.jp)
The translocator protein (TSPO) has been implicated in mitochondrial transmembrane cholesterol transport, brain inflammation, and other mitochondrial functions. (biorxiv.org)

Cells without functional mitochondrial DNA (mtDNA) are like cars without gas. (discovermagazine.com)

This FOA aims to foster the utilization of innovative experimental design and emerging technologies, such as genomics, proteomics, metabolomics, bioinformatics, as well as novel microscopic imaging techniques that illuminate mitochondrial function in intact cells and tissues, to generate new mechanistic and clinical insights into alcohol-induced tissue injuries. (nih.gov)
Mitochondrial proteins are encoded by both nuclear and mitochondrial genes, making the human mitochondrial proteome a good candidate for an integrated systems biology/proteomics model system. (nih.gov)
For more information, visit Mitochondrial Proteomics. (nih.gov)

Taken together these results suggest a role for Ssq1p, Jac1p, and Nfs1p in assembly/maturation of mitochondrial iron-sulfur proteins and that one or more of the target Fe/S proteins contribute to oxidative damage in cells lacking copper/zinc SOD. (nih.gov)

ALDH5A1 belongs to the aldehyde dehydrogenase family of proteins. (novusbio.com)

The function of protein and RNA molecules depends on complex epistatic interactions between sites. (nature.com)
The encoded protein exchanges dicarboxylates, such as malate and succinate, for phosphate, sulfate, and other small molecules, thereby providing substrates for metabolic processes including the Krebs cycle and fatty acid synthesis. (antikoerper-online.de)
[7] In humans RNAP II consists of seventeen protein molecules (gene products encoded by POLR2A-L, where the proteins synthesized from 2C-, E-, and F-form homodimers). (wikiversity.org)

This gene encodes a member of the adenylate kinase family of enzymes. (thermofisher.com)
Nfs1p is homologous to cysteine desulfurase enzymes that function in iron-sulfur cluster assembly and is also predicted to be mitochondrial. (nih.gov)
These encode for 13 essential subunits of electron transport chain enzymes, two ribosomal RNAs and 22 transfer RNAs [ 7 ]. (biomedcentral.com)
Activated Nrf2 mediates induction of a battery of cytoprotective genes encoding phase 2 detoxification enzymes and antioxidative proteins that inhibit ROS production and apoptosis by Cr(VI). (cdc.gov)
In hepatocytes cultured in the presence of benfluorex or S 422-1 (10 or 100 μmol/l), the expression of genes encoding enzymes of fatty acid oxidation (carnitine palmitoyltransferase [CPT] I), ketogenesis (hydroxymethylglutaryl-CoA synthase), and gluconeogenesis (glucose-6-phosphatase, PEPCK) was decreased, whereas mRNAs encoding glucokinase and pyruvate kinase were increased. (diabetesjournals.org)

expression and do not allow true genomic-scale analysis, The primary aim of investigating bacterial pathogenesis but they have been devised to identify genes necessary for is to understand the way that pathogens interact with the pathogens during real infections. (cdc.gov)
We will then summarize some of the well-known and newly identified PD-associated genes and their direct or indirect influences on ETC. Finally, we discuss the OXPHOS-independent functions of ETC proteins and their possible implications in PD pathogenesis. (frontiersin.org)

Two of these environment, pathogens must be able to regulate the neces- methods, signature-tagged mutagenesis and in vivo sary genes in coordination as they move from the environ- expression technology, do not directly measure gene ment to the host and from one host niche to another. (cdc.gov)
Many of these genes have been found in previous studies to encode mitochondrial proteins or to help regulate ubiquitination, a process that cells use to mark proteins for degradation. (nih.gov)
While other PD-associate genes, such as LRRK2 , SNCA , and GBA1 , regulate lysosomal functions, lipid metabolism, or protein aggregation, some have been shown to indirectly affect the electron transport chain. (frontiersin.org)
AGEs up-regulate the expression of mitochondrial pro-fissional gene Drp1 and down-regulate the expression of mitochondrial pro-fusional genes Mfn1 , Mfn2, and Opa1 in HAECs. (tbdb.org)
Although it is harder to regulate the transcription of genes with multiple transcription start sites, "variations in the expression of a constitutive gene would be minimized by the use of multiple start sites. (wikiversity.org)
From a teleological standpoint, this arrangement [of focused promoters] is consistent with the notion that it would be easier to regulate the transcription of a gene with a single transcription start site than one with multiple start sites. (wikiversity.org)

LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability. (nih.gov)
This protein establishes mitochondrial morphology through a role in distributing mitochondrial tubules throughout the cytoplasm. (origene.com)
Mitochondrial morphology of HAECs in every group was decided with transmission electron microscopy. (tbdb.org)

Dcp2 limits translation of many mRNAs encoding proteins that are not crucial for growth when cells have access to abundant, preferred nutrients, particularly those involved in mitochondrial respiration. (nih.gov)

Human heat shock cognate protein (HSC70/HSPA8) interacts with negatively charged phospholipids by a different mechanism than other HSP70s and brings HSP90 into membranes. (ucsd.edu)

Mitochondrial gene expression in Saccharomyces cerevisiae is responsible for the production of highly hydrophobic subunits of the oxidative phosphorylation system. (molbiolcell.org)
Only thirty-seven genes (22 transfer RNAs, 2 ribosomal RNAs and 13 polypeptides that form structural subunits of OXPHOS system) [ 86 ] are encoded by mtDNA. (springer.com)

LOCUS CRU81552 3128 bp DNA PLN 08-JAN-1997 DEFINITION Chlamydomonas reinhardtii hypothetical ycf9 protein (ycf9) and photosystem II subunit (psbM) genes, chloroplast genes encoding chloroplast proteins, complete cds. (bio.net)
Both mitochondrial and chloroplast genomes are believed to have evolved through endosymbiosis. (jrank.org)
Plants that lack the protein of unknown function have altered responses of genes encoding for mitochondrial and chloroplast proteins under starvation conditions. (helsinki.fi)

It provides the instructions for building an entire organism and the proteins that drive our existence from conception until death. (discovermagazine.com)

The function of the mitochondrial respiratory chain is to maintain adequate cellular concentrations of ATP by aerobic oxidative phosphorylation. (medscape.com)
Thirteen of the genes in mitochondrial DNA code for proteins in the oxidative phosphorylation (OxPhos) relay, a process that is crucial for metabolism and cellular respiration. (sens.org)
They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. (origene.com)
New insights on human Hsp70-escort protein 1: Chaperone activity, interaction with liposomes, cellular localizations and HSPA's self-assemblies remodeling. (ucsd.edu)
First proposed in 2004, the "mitochondrial cascade hypothesis" posits that changes in the cellular powerhouses, not amyloid buildup, are what cause neurons to die. (neurodegenerationresearch.eu)
The structural and functional integrity of nucleic acids and proteins is critical for establishing a physiological balance to maintain normal cellular health. (elifesciences.org)

The results suggest that many of the genes identified in this study may work like quality control agents in a variety of cell types, including neurons. (nih.gov)
If these "jumping genes" lose their normal controls as a person ages, they could start to wreak havoc on the machinery that supplies energy to brain cells - leading to a loss of neurons and ultimately dementia. (neurodegenerationresearch.eu)

In this review article we cover mitochondrial genetics and common neurological presentations associated with adult mitochondrial disease. (springer.com)
In this review article, we discuss the genetics and epidemiology of mitochondrial disease, neurological presentations and their management, genetic counselling and reproductive options for patients. (springer.com)
The purpose of reissuing the Reproductive Genetics PA is to indicate our continued desire to support new studies on the genes, and genetic and epigenetic mechanisms influencing sex determination, fertility, reproductive health and reproductive aging, and other topics in Reproductive Genetics and Epigenetics. (nih.gov)

This gene encodes a 39S subunit protein. (wikipedia.org)

These sequences show a highly conserved overall gene number and organization in the different species. (jrank.org)
These sequences represent the protein coding region of the pnpt1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. (genscript.com)

This requires a more detailed examination of mtDNA heterogeneity and mitochondrial regeneration. (biomedcentral.com)

RNAi is a natural process that cells use to turn down, or silence, the activity of specific genes. (nih.gov)
Working in collaboration with RNAi expert Dr. Scott Martin's team at NIH's National Center for Advancing Translational Sciences (NCATS), the researchers used robotics to introduce small interfering RNAs (siRNAs) into human cells to individually turn off nearly 22,000 genes. (nih.gov)
The researchers tested one of the genes, TOMM7 , in human nerve cells. (nih.gov)
Our data presents a network of mitochondrial interactions of TSPO and its A147T polymorphism variant in human glial cells and indicate functional relevance of A147T in mitochondrial protein networks. (biorxiv.org)
Urine should be examined for decreased specific gravity and increased excretion of protein, cells, and casts. (nih.gov)
RNA polymerase II is recruited to the promoters of protein-coding genes in living cells. (wikiversity.org)

Each of the suppressor mutants identified exhibited diminished rates of respiratory oxygen consumption and was found to have reduced mitochondrial aconitase and succinate dehydrogenase activities. (nih.gov)

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. (origene.com)

39S ribosomal protein L4, mitochondrial is a protein that in humans is encoded by the MRPL4 gene. (wikipedia.org)
Overview of all the structural information available in the PDB for UniProt: Q9BYD3 (39S ribosomal protein L4, mitochondrial) at the PDBe-KB. (wikipedia.org)

However, harmful stimuli (such as ischemia-reperfusion, oxidative stress, and toxic chemicals) can change the direction and efficiency of intercellular mitochondrial transfer. (frontiersin.org)

4. Uncoupling protein-1 and related messenger ribonucleic acids in human epicardial and other adipose tissues: epicardial fat functioning as brown fat. (nih.gov)
13. Expression of fat mobilizing genes in human epicardial adipose tissue. (nih.gov)
Full length human recombinant protein of human DNM1L(NP_036192) produced in HEK293T cell. (origene.com)
MRPS9 (NP_872578.1, 1 a.a. ~ 396 a.a) full-length human protein. (sigmaaldrich.com)
Find PDK2 Proteins for a variety of species such as anti-Human PDK2, anti-Mouse PDK2. (antibodies-online.com)
The NEET family is a relatively new class of three related [2Fe-2S] proteins (CISD1-3), important in human health and disease. (cancerindex.org)
[2] While this constitutes at most only 0.0003125% of the human genome's approximately 3.2 billion bases, unrepaired lesions in critical genes (such as tumor suppressor genes ) can impede a cell's ability to carry out its function and appreciably increase the likelihood of tumor formation and contribute to tumor heterogeneity . (wikipedia.org)
A broad set of human health issues relate to mitochondrial function, from the biology of cancer development to issues relating to homeland security that include bioterrorism and chemical toxicities. (nih.gov)
Human recombinant protein fragment corresponding to amino acids 323-547 of human DDX56 (NP_061955) produced in E.coli. (origene.com)
DJ-1 superfamily proteins, including the human DJ-1, a genetic determinant of Parkinson's disease, possess diverse physiological functions paramount for combating multiple stressors. (elifesciences.org)
Each human gene is made up of deoxyribonucleic acid (DNA) in a double helix. (wikiversity.org)

The mitochondrial proteome consists of polypeptides from two genetic sources. (molbiolcell.org)

Mrx15 contacts mitochondrial translation products during their synthesis and plays, together with the ribosome receptor Mba1, an overlapping role in cotranslational protein insertion. (molbiolcell.org)
This gene may be involved in ribosome synthesis, most likely during assembly of the large 60S ribosomal subunit. (origene.com)

LOCUS CRU80804 3320 bp DNA PLN 19-DEC-1996 DEFINITION Chlamydomonas reinhardtii beta-carbonic anhydrase (ca1) gene, nuclear gene encoding mitochondrial protein, complete cds. (bio.net)

They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. (wikipedia.org)

We hope this review will provide perspectives on mitochondrial-targeted therapeutics in cardiovascular diseases. (frontiersin.org)
Therefore, patients with cardiovascular diseases would fail to achieve the desired outcomes by using these mitochondrial-targeted drugs ( 5 ). (frontiersin.org)
Mitochondrial disease is one of the most common groups of genetic diseases with a minimum prevalence of greater than 1 in 5000 in adults. (springer.com)
Mitochondrial disease is a collective term that encompasses the genetically and clinically heterogeneous group of diseases due to defects in mitochondrial oxidative phosphorylation. (springer.com)
This threshold effect explains tissue-related variability in the clinical presentation of both inherited and acquired mitochondrial diseases [ 8 ]. (biomedcentral.com)
The TOMM40 gene is one example, but if Alus disrupt other mitochondrial genes, the same basic mechanism could help explain the initial stages of other neurodegenerative diseases too, including Parkinson's disease, Huntington's disease and amyotrophic lateral sclerosis (ALS). (neurodegenerationresearch.eu)

Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. (wikipedia.org)

This gene encodes a member of the pyruvate dehydrogenase kinase family. (antibodies-online.com)

Because the environment encountered as well as methods that allow direct measurement of gene within a living host will be quite different from the external expression during interaction with a host. (cdc.gov)
PERSPECTIVE their application to analysis of bacterial pathogens during terial gene expression during growth in vitro under condi- real infections is still in its infancy. (cdc.gov)
2. Expression of epicardial adipose tissue thermogenic genes in patients with reduced and preserved ejection fraction heart failure. (nih.gov)
6. Expression of Sterol Regulatory Element-Binding Proteins in epicardial adipose tissue in patients with coronary artery disease and diabetes mellitus: preliminary study. (nih.gov)
10. Extension of coronary artery disease is associated with increased IL-6 and decreased adiponectin gene expression in epicardial adipose tissue. (nih.gov)
11. Brown fat like gene expression in the epicardial fat depot correlates with circulating HDL-cholesterol and triglycerides in patients with coronary artery disease. (nih.gov)
The majority of the characterized proteins are involved in gene expression, electron transfer or in photosynthesis. (jrank.org)
GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. (genscript.com)
Protein expression is influenced by many factors that may vary between experiments or laboratories. (genscript.com)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
Sex determination, as an early embryological event, can help us address basic questions of the regulation of gene expression, cell-fate determination, and hormone signaling. (nih.gov)
Extremes of age are associated with differences in the expression of selected pattern recognition receptor genes and ACE2, the receptor for SARS-CoV-2: implications for the epidemiology of COVID-19 disease. (ucsd.edu)
The effects of benfluorex and two of its metabolites (S 422-1 and S 1475-1) on fatty acid and glucose metabolic fluxes and specific gene expression were studied in hepatocytes isolated from 24-h fasted rats. (diabetesjournals.org)
By contrast, Glut-2, acyl-CoA synthetase, and CPT II gene expression was not affected by benfluorex or S 422-1. (diabetesjournals.org)
In conclusion, this work suggests that benfluorex mainly via S 422-1 reduces gluconeogenesis by affecting gene expression and metabolic status of hepatocytes. (diabetesjournals.org)
These findings indicate that gene expression levels can be modulated via the core promoter. (wikiversity.org)

Their genes are transcribed and translated by a genetic system residing in the matrix of the organelle. (molbiolcell.org)
The aim of this study was to use the sequence of mitochondrial control region to investigate the phylogenetic relationship and genetic distances between some domestic sheep breeds of Iran and other Middle Eastern countries. (researchgate.net)
7 ) Recent advances in our understanding of single-gene causes of both syndromic and non-syndromic hearing loss are likely to increase the role of specific genetic tests in the evaluation of individuals with hearing loss. (cdc.gov)
The GBA1 gene, which encodes the lysosomal hydrolase β-glucocerebrosidase (GCase) is the most common genetic risk factor for PD and is also linked to other neurodegenerative disorders including dementia with Lewy bodies (DLB). (nih.gov)

A translocation event between this gene and Notch coactivator mastermind-like gene 2, which results in a fusion protein, has been reported in mucoepidermoid carcinomas. (nih.gov)

Anatomy22

Organisms14

Diseases9

Chemicals and Drugs132

Analytical, Diagnostic and Therapeutic Techniques and Equipment17

Phenomena and Processes56

Disciplines and Occupations2

Information Science4

Mitochondria35

Genome26

Inner mitochon4

Mitochondrion5

Mutations12

Dysfunction8

MRNA12

RefSeq2

Variants6

Reactive11

Mutation9

Isoforms1

Cytochrome2

Pathways3

Evolutionarily conserved1

Complexes5

Biogenesis4

Cytosolic4

Mammalian5

Membrane8

Fission6

Homeostasis3

Transmembrane3

Functional mitochondrial1

Proteomics3

Iron-sulfur p1

Family of proteins1

Molecules3

Enzymes5

Pathogenesis2

Regulate6

Morphology3

MRNAs1

Interacts1

Subunits2

Chloroplast3

Organism1

Cellular6

Neurons2

Genetics3

Subunit protein1

Sequences2

MtDNA1

Cells6

Respiratory1

Putative1

Ribosomal protein2

Oxidative stress1

Human11

Proteome1

Ribosome2

Nuclear gene1

RRNA1

Diseases6

Sequence homology1

Pyruvate dehydr1

Expression16

Genetic4

Fusion protein1