Protein expression expression homozygote. Medical search. Frequent questions

The coding exons of agouti are placed under the control of the Raly promoter, initiating ubiquitous expression of agouti, increasing production of pheomelanin over eumelanin and resulting in the development of a yellow phenotype. (wikipedia.org)
No unique phenotype for genetic homozygotes has been reported. (medscape.com)
In the rare disease erythropoietic protoporphyria , haploinsufficiency for ferrochelatase ( FECH ) contributes to the clinical phenotype but is not the only reason for the disease expression. (dorak.info)
These results demonstrate that astrocytes isolated from B6.129S6-Il10 tm1Flv /J homozygotes are prone to A1 phenotype and contribute to the depression-like behavior and memory deficits. (biomedcentral.com)
Most mutations in ATM result in truncation and destabilisation of the protein, but certain missense and splicing errors have been shown to produce a less severe phenotype. (bmj.com)
Hemizygous transgenic phenotype is expected to be similar to homozygote phenotype. (mmrrc.org)
These findings provide a basis for further studies that associate CYP2A13 haplotypes with incidences of smoking-related lung tumors and for studies on the mechanisms of the low-expression phenotype of the 7520G-containing allele. (aspetjournals.org)

The Y-linked sex determining gene SRY regulates this process by initiating a pathway of gene and protein expression, including the expression of critical autosomal genes such as SOX9 . (plos.org)
Our data indicate, for the first time, a requirement for MAPK signaling in the developing XY gonad in order to facilitate normal expression of SRY and the downstream testis-determining genes and also suggest that reduced dosage of MAP3K4 may be the cause of a previously described autosomal sex-reversing mutation in the mouse. (plos.org)
Thus, LMX1B regulates the expression of multiple podocyte genes critical for podocyte differentiation and function. (nih.gov)
Family members with confirmed identical ATP2A2 mutations can exhibit differences in the clinical severity of disease, suggesting that other genes or environmental factors affect the expression of keratosis follicularis (Darier disease). (medscape.com)
MicroRNAs (miRNAs) negatively regulate the expression of the target genes by binding to ʻseed sequences' in the 3'‑untranslated region (3'‑UTR) mRNA transcripts, and the variants within or nearby ʻseed sequences' may compromise or enhance miRNA/mRNA interaction leading to either ʻloss‑of‑function' or ʻgain‑of‑function' effects. (spandidos-publications.com)
MicroRNAs (miRNAs), a class of endogenous small non-coding RNAs of 20-25 nucleotides, modulate the expression of genes at the post-transcriptional level ( 7 ). (spandidos-publications.com)
Studies on rodent UGT genes have demonstrated that the transcription factors hepatocyte nuclear factor 1 (HNF1) and CAAT-enhancer binding protein are important positive regulators of UGT expression in the liver (Hansen et al. (aspetjournals.org)
Genetic analysis has uncovered that genes necessary for epithelial polarity code for cytoskeletal proteins and their regulators, like the par-3 protein Bazooka ( Kuchinke, Grawe & Knust, 1998 ) or the EGF and laminin domains-containing protein Crumbs ( Tepass, Theres & Knust, 1990 ). (peerj.com)
Signaling genes necessary for orchestrating these processes (like the JNK pathway ( Rios-Barrera & Riesgo-Escovar, 2013 )) regulate cytoskeletal proteins, like the FERM-domain proteins Coracle ( Fehon, Dawson & Artavanis-Tsakonas, 1994 ) and Yurt ( Hoover & Bryant, 2002 ). (peerj.com)
Extensive evidence has revealed that the core clock machinery involves "clock genes" and "clock proteins" functioning as molecular cogs. (bioone.org)
Interestingly, cuticular-related protein genes (chinase and chitin) were predominantly downregulated, which was also confirmed in the functional enrichment analysis. (cdc.gov)

Subjects with R/R genotype had significantly higher FVIIc levels than Q353 heterozygote and homozygote subjects (96.36 versus 59.52). (who.int)

Agouti-signaling protein is a protein that in humans is encoded by the ASIP gene. (wikipedia.org)
These data demonstrate that MAP3K4-dependent signalling events are required for normal expression of Sry during testis development, and create a novel entry point into the molecular and cellular mechanisms underlying sex determination in mice and disorders of sexual development in humans. (plos.org)
Resistin expression in humans has been reported at low levels in the adipose tissue of some but not all humans ( 7 , 8 ), and its reduced expression has also been proposed as a hallmark of obesity ( 9 ). (diabetesjournals.org)
and 3) describing the functions of cholesteryl ester transfer protein (CETP) in regulating the LDL:HDL ratio in humans, including therapeutic strategies targeting CETP. (biomedcentral.com)
and 4) Expression of a protein from a particular species, such as mice, in an orthologous organism such as humans. (genecopoeia.com)
vCJD has been suggested to be transmitted among humans by transfusion of nonleukodepleted erythrocytes or purified protein factors from plasma ( 12 , 13 ). (cdc.gov)

Lethal yellow homozygotes are rare today, while lethal yellow and viable yellow heterozygotes (Ay/a and Avy/a) remain more common. (wikipedia.org)
Homozygotes or heterozygotes may show an eighth rib attached to the sternum. (utsouthwestern.edu)
To avoid potential confounding by sample-to-sample differences in the quality and yield of RNA preparations, or by interindividual differences in trans -acting factors that influence the expression of CYP2A13 , we determined the relative expression of variant and wild-type (WT) CYP2A13 alleles in RNA samples from heterozygotes. (aspetjournals.org)

The most widely studied allele variants are the lethal yellow mutation (Ay) and the viable yellow mutation (Avy) which are caused by ectopic expression of agouti. (wikipedia.org)
Homozygotes for a gene trapped allele die throughout fetal growth and development showing pallor and altered placental labyrinth vasculature. (jax.org)
The current study demonstrated that the rs78378222 polymorphism minor allele introduces a novel potential miR‑125b binding site in the TP53 3'‑UTR with a consecutive 8‑bp perfect match, creating a ʻgain‑of‑function' variant and affecting the regulation of TP53 expression. (spandidos-publications.com)
If expression of a trait requires only one copy of a gene (one allele). (msdmanuals.com)
DAPK1 variants are associated with Alzheimer's disease and allele-specific expression. (ox.ac.uk)
Minor allele homozygotes had a consistently lower risk than major allele homozygotes in the discovery and initial two replication sample sets, which remained significant in the meta-analysis of all six sample sets (OR=0.7, 95%CI: 0.58-0.85), whereas the risk for heterozygous subjects was not significantly different from that of major allele homozygotes. (ox.ac.uk)

Loss of function mutations in mice and other species cause black fur coloration, while mutations causing expression throughout the whole body in mice cause yellow fur and obesity. (wikipedia.org)
Scope includes mutations and abnormal protein expression. (cancerindex.org)
The mechanisms by which specific ATP2A2 mutations impact the function of the ATP2A2 protein have been investigated using an in vitro model. (medscape.com)
In a different study, in which researchers systematically analyzed mutations identical to those found in patients with Darier disease, mutant SERCA2 protein aggregates were found to cause stress to the endoplasmic reticulum, subsequently inducing cell apoptosis. (medscape.com)
Mutations in the amyloid precursor protein, presenilin 1 and presenilin 2, can cause autosomal dominant forms of early onset AD. (bmj.com)
Homozygotes for targeted mutations exhibit small size, hypoinsulinemia, glucose intolerance, decreased number and size of pancreatic islets, deafness with degeneration of hair cells, bradycardia, and arrhythmia. (jax.org)
[ 7 ] Both mutations created stop codons leading to truncation of the PAX3 protein. (medscape.com)

Along with the homologous Agouti-related peptide, these are the only known mammalian proteins to adopt this fold. (wikipedia.org)
Structurally, the IL-17 cytokine family members have no sequence similarity to any other known cytokine or other mammalian proteins [ 2 ]. (hindawi.com)

This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as an inverse agonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. (wikipedia.org)
The murine agouti gene locus is found on chromosome 2 and encodes a 131 amino acid protein. (wikipedia.org)
ATP2A2, located on 12q23-24.1, encodes the sarcoplasmic/endoplasmic reticulum Ca 2+ -ATP isoform 2 protein (SERCA2), which is a calcium pump. (medscape.com)
This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. (utsouthwestern.edu)
An uncommon juvenile-onset variant that is characterized by severe iron overload, cardiac dysfunction, hypogonadotropic hypogonadism, and a high mortality rate is usually linked to a variant gene on chromosome 1q designated HJV that produces a protein called hemojuvelin (type 2a) or, rarely, to a variant of the HAMP gene on chromosome 19 that encodes hepcidin (type 2b). (mhmedical.com)
The ATM gene encodes a large protein that belongs to a family of kinases possessing a highly conserved C-terminal kinase domain related to the phosphatidylinositol 3-kinase domain. (bmj.com)
It encodes a membrane-associated protein called the cystic fibrosis transmembrane conductance regulator (CFTR). (msdmanuals.com)
The cytochrome c oxidase assembly factor 7 ( COA7 ) encodes COA7 (NM_023077.2), a protein known as respiratory chain assembly factor 1, sel1 repeat-containing protein 1, and C1orf163. (biomedcentral.com)

Multivariable regression analyses were used to examine the associations among protein modules, AD diagnoses, cerebrospinal fluid (CSF) phosphorylated tau (p-tau), and brain glucose metabolism, stratified by APOE genotype. (bvsalud.org)
The impor- objectives of determining the frequencies tance of FVII in normal haemostasis is il- of these gene polymorphisms in the popula- lustrated by the severe bleeding diathesis tion and clarifying the genotype association associated with low plasma levels of the of the R353Q and 0/10 bp insertion poly- protein [ 3 ]. (who.int)

While pups homozygous for the insertion are born at slightly lower frequency than heterozygous pups, homozygotes appeared to develop normally and were fertile. (genecopoeia.com)

Although homozygous Cx50D47A lenses have increased levels of p62, a specific reduction in p62 phosphorylation at T269/S272, and a specific increase in p62 phosphorylation at S349, this protein is not a critical determinant of the severity of the abnormalities of these lenses (reduced growth or differentiation and cataracts). (molvis.org)
The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. (utsouthwestern.edu)

Here we outline the current status of the viral evasion mechanism underlying the regulation of the cGAS-STING pathway, focusing on how post-transcriptional modifications, viral proteins, and non-coding RNAs involve innate immunity during viral infection, attempting to inspire new targets discovery and uncover potential clinical antiviral treatments. (frontiersin.org)
The models of most immune evasion during innate immune responses are conserved, including altering the post-transcriptional modifications (PTMs) of vital proteins to inactivate or degrade these components, eluding DNA sensing from PRRs, decreasing cyclic GMP-AMP (cGAMP) cellular abundance, and modifying metabolism approach in host cells ( Eaglesham and Kranzusch, 2020 ). (frontiersin.org)
MicroRNAs (miRNAs) are an integral part of the post-transcriptional machinery of gene expression and have been implicated in the carcinogenic cascade. (cdc.gov)

However, mRNA and protein levels for CD2AP and podocin were greatly reduced, suggesting a cooperative role for these molecules in foot process and slit diaphragm formation. (nih.gov)
Additionally, transfection with 50 nM miR‑125b mimics markedly reduced the mRNA and protein expression levels of TP53 in the cultured lens epithelial cells, and miR‑125b significantly induced apoptosis in the epithelial cells compared with negative control cells. (spandidos-publications.com)

Expression of glomerular basement membrane (GBM) collagens is reduced in Lmx1b(-/-) mice, suggesting one basis for NPS nephropathy. (nih.gov)
Pretreatment IL-10 tm1/tm1 mice with IL-10 or fluorocitrate decreased the expression of proinflammatory factors and A1-specific transcripts in the hippocampus and cortex, and then alleviated LPS-induced depressive-like behavior. (biomedcentral.com)
Genetic restoration of CETP expression in mice to generate a more human-like lipid profile may increase the relevance of murine models for VCID studies. (biomedcentral.com)

Cellular stresses and abnormalities of protein and organelle degradation have been implicated in the pathogenesis of cataracts of many different etiologies. (molvis.org)

Expression analysis of mutant XY gonads at the same stage also reveals a dramatic reduction in Sox9 and, crucially, Sry at the transcript and protein levels. (plos.org)
Two SNVs affect the protein structure in several ways, including reduction of catalytic activity and reduction in stability and expression of the full-length transcript. (ectrx.org)

The byg mutation is an A to T transversion causing a premature stop codon in the gene encoding MAP3K4 (also known as MEKK4), a mitogen-activated protein kinase kinase kinase. (plos.org)
It involves introduction of a mutation into the "unknown" gene which will suppress its expression. (freeonlineresearchpapers.com)
Offspring is then mated with each other in order to create a homozygote of the mutation. (freeonlineresearchpapers.com)
Homozygotes are then studied for the effect of the mutation on the functioning of the organism. (freeonlineresearchpapers.com)
However, with early diagnosis of active disease, identification of asymptomatic protoporphyrinogen oxidase gene mutation carriers, and avoidance of drugs and other factors known to induce or worsen clinical expression, symptomatology among those at risk can be minimized. (medscape.com)

The RR was significantly higher in patients with a 6-bp deletion homozygote (-6 bp/-6 bp) in TS-3'UTR (55.0% vs . 30.3% in +6 bp/+6 bp or +6 bp/-6 bp, p = 0.034), and C/A or A/A in XPD156 (52.0% vs . 26.1% in C/C, p = 0.038). (biomedcentral.com)
These data were recapitulated in vivo, where G/G homozygotes had significantly higher resistin mRNA levels in human abdominal subcutaneous fat. (diabetesjournals.org)
Furthermore, it was demonstrated that the expression level of miR‑125 was comparable in epithelial cells from patients with age‑associated cataracts and controls, whereas the expression level of TP53 was significantly higher in the cataract group compared with controls. (spandidos-publications.com)
CYP2A13 genetic polymorphisms may be associated with interindividual differences in susceptibility to tobacco-related tumorigenesis, because the resultant variations in CYP2A13 expression and metabolic activity can significantly alter the extent of NNK metabolic activation in human lung. (aspetjournals.org)

Three proteins from this module, C-reactive protein (CRP), complement C3, and complement factor H (CFH), had dose-dependent associations with CSF p-tau and cognitive impairment only in APOE Îµ4 homozygotes. (bvsalud.org)
This narrative review focuses on the role of cholesteryl ester transfer protein (CETP) and peripheral lipoproteins in the vascular contributions to cognitive impairment and dementia (VCID). (biomedcentral.com)

This has come to be a range of "omics"-related tests, such as DNA variation, protein or mRNA expression, metabolites, and biomarkers. (usf.edu)

In the developing male (XY) gonad, sex-determining region of the Y (SRY) protein acts to up-regulate expression of the related gene, SOX9 , a transcriptional regulator that in turn initiates a downstream pathway of testis development, whilst also suppressing ovary development. (plos.org)

Cataracts are the leading cause of blindness worldwide and are characterized by progressive aggregation and precipitation of lens proteins, and the development of age‑related cataracts is associated with dysregulated cellular activities of lens epithelial cells. (spandidos-publications.com)

For instance, due to their genetic flexibility, viruses have developed various viral proteins and non-coding RNAs to interrupt several checkpoints of cGAS-STING. (frontiersin.org)
Genetic epistasis tests show that Dab functions upstream of Abl and ena , and, consistent with this, we show that Dab is required for the subcellular localization of these two proteins. (biologists.com)

[ 25 ] In particular, studies have revealed that keratosis follicularis (Darier disease) keratinocytes displayed abnormal trafficking of the desmosomal protein desmoplakin and abnormal expression of cytokeratins 10 and 14. (medscape.com)

The -6 bp/-6 bp deletion polymorphism in the 3'UTR of TS is associated with decreased mRNA stability in vitro and lower intratumoral TS expression in vivo . (biomedcentral.com)
In hypermobility type of Ehlers-Danlos syndrome , haploinsufficiency (where one copy is unable to produce the protein in sufficient quantity) due to a 30-kb deletion of tenascin-X (TNXB) gene is responsible for the disease. (dorak.info)

This mutant, which we called boygirl ( byg ), was shown to contain an early stop codon that disrupts the autosomal gene encoding MAP3K4, a component of the mitogen-activated protein kinase (MAPK) signaling pathway. (plos.org)
It has long been speculated that the adaptor protein Disabled (Dab), which is a key regulator of neuronal migration in the vertebrate brain, might be a component of this signaling pathway, but this idea has been controversial. (biologists.com)

The factors that govern this specificity of UGT expression remain largely unknown. (aspetjournals.org)
Protein misfolding cyclic amplification (PMCA) can detect prions in blood from vCJD patients with 100% sensitivity and specificity. (cdc.gov)

The HFE protein is thought to play an important role in the process by which duodenal crypt cells sense body iron stores, and the variant gene leads to increased iron absorption from the duodenum. (mhmedical.com)
The frequency of the C282Y variant averages 7% in Northern European and North American White populations, resulting in a 0.5% frequency of homozygotes (of whom 38-50% will develop biochemical evidence of iron overload but only 28% of men and 1% of women will develop clinical symptoms). (mhmedical.com)
The CFTR variants have been divided into six classes based on how the variant affects the function or processing of the CFTR protein. (msdmanuals.com)

Using antibodies to podocyte proteins important for podocyte function, we found that Lmx1b(-/-) podocytes express near-normal levels of nephrin, synaptopodin, ZO-1, alpha3 integrin, and GBM laminins. (nih.gov)

The UGT1 family constitutes a complex gene locus on human chromosome 2q37 and comprises 13 first exons that encode the unique N-terminal domains of the UGT1A proteins and exons 2 to 5 that encode the C-terminal domain, which is identical in all UGT1A family members ( Owens and Ritter, 1992 ). (aspetjournals.org)
ZIP4 is a ZMM protein involved in homologous recombination and may act as a hub through physical interactions with components of the chromosome axis and other ZMMs 19 . (nature.com)
We tested gene-centric single nucleotide polymorphisms (SNPs) on chromosome 9 and identified two SNPs in the death-associated protein kinase, DAPK1, that show significant association with LOAD. (ox.ac.uk)

Electron microscopy reveals loss of desmosomes (epithelial intercellular junctions formed by membrane and submembrane protein complexes), breakdown of desmosome-keratin intermediate filament attachment, and perinuclear aggregates of keratin intermediate filaments. (medscape.com)
During PMCA, small amounts of infectious PrP Sc aggregates convert PrP C into PrP Sc , producing larger protein aggregates that are fragmented into many smaller nucleating seeds for the continued in vitro conversion of PrP C into PrP Sc ( 18 - 20 ). (cdc.gov)

The four conserved cysteines in the C-terminal half of the IL-17F sequence are shown to form a cystine knot structural motif in the crystal structure, and, interestingly, this cystine knot structure is similar to a common structural motif seen in several growth factors, such as bone morphogenic proteins (BMPs), TGF- β , nerve growth factor (NGF), and platelet-derived growth factor (PDGF) [ 9 ]. (hindawi.com)
8 , 9 The protein is a member of a novel family of large proteins, which show sequence homology to the catalytic domain of phosphatidylinositol 3 kinase, 3 and are implicated in cell cycle regulation, signal transduction, and the response to DNA damage. (bmj.com)
Sequence variations that affect CYP2A13 expression may contribute to interindividual differences in susceptibility to tobacco-related tumorigenesis. (aspetjournals.org)

Inactivation of TCF7L2 protein attained by removing the high-mobility group (HMG)-box DNA binding domain in mature adipocytes in vivo leads to whole-body glucose intolerance and hepatic insulin resistance. (medscape.com)

METHODS: To amplify P1/P2 specific sequences in the heart, we used two different sense primers complementary to either P1 or P2 5'-regions to monitor the expression of P1/P2 transcripts. (bvsalud.org)
METHODS: Plasma protein modules/cascades were analyzed using weighted gene co-expression network analysis (WGCNA) in the Alzheimer's Disease Neuroimaging Initiative study. (bvsalud.org)
In contrast with conventional biochemical methods, we developed a detection platform for self-replicating PrP Sc called protein misfolding cyclic amplification (PMCA) ( 18 ). (cdc.gov)

On the basis of the findings of clinical olfactory function tests and animal model experiments as well as neurotransmitter expression levels, we further characterize the relationship between olfactory dysfunction and neurodegenerative diseases as well as the molecular mechanisms underlying olfactory dysfunction in the pathology of early-stage Parkinson's disease. (bvsalud.org)
There is an urgent need to fully understand the expression pattern of Runx1 in the heart and the mechanisms by which it is controlled under normal conditions and in response to disease. (bvsalud.org)
Some studies of keratosis follicularis (Darier disease) have suggested that alterations in calcium regulation may affect the synthesis, folding, or trafficking of desmosomal proteins. (medscape.com)
Cholesteryl Ester Transfer Protein in Alzheimer's Disease. (biomedcentral.com)
The expression of IL-17F is seen in the airway of asthmatics and its level is correlated with disease severity. (hindawi.com)
Disease manifests only in homozygotes. (msdmanuals.com)

These results could inform development of novel molecular tools for detection of resistance-associated gene expression in this important arbovirus vector and guide the design and implementation of resistance management strategies. (cdc.gov)

Homozygotes exhibit rib fusion, abnormal rib attachment to the sternum, and reduced intercostal segments of the sternum. (utsouthwestern.edu)
Accumulating evidence demonstrates that many of the 17 human UGTs characterized to date exhibit tissue-specific patterns of expression. (aspetjournals.org)

4 , 10 There is evidence to suggest that these proteins respond to DNA damage by phosphorylating one or more substrates, including p53, c-Abl, and replication protein A (RPA), to recruit proteins to regions of DNA repair and/or to activate radiation signal transduction pathways. (bmj.com)

The agouti-signaling protein (ASIP) is a competitive antagonist with alpha-Melanocyte-stimulating hormone (α-MSH) to bind with melanocortin 1 receptor (MC1R) proteins. (wikipedia.org)

The aim of this study was to identify any impact of CYP2A13 single-nucleotide polymorphisms (SNPs) on CYP2A13 expression in human lung. (aspetjournals.org)

Our results show that astrocytes isolated from B6.129S6-Il10 tm1Flv /J homozygotes (IL-10 tm1/tm1 ) were prone to characteristics of A1 reactive astrocytes. (biomedcentral.com)

Protein levels were determined with immunoblotting. (molvis.org)
Our results indicate that reduced levels of proteins associated with foot processes and the glomerular slit diaphragm likely contribute, along with reduced levels of GBM collagens, to the nephropathy associated with NPS. (nih.gov)
RESULTS: The expression levels of both P1- and P2-derived Runx1 transcripts were decreased in older rats when compared with that in young adults, paralleled with an age-dependent decline in Runx1 protein level. (bvsalud.org)
Furthermore, reverse transcription‑quantitative polymerase chain reaction and western blotting were conducted to detect expression levels of miR‑125b and TP53 in different groups of cells transfected with miR‑125b mimics or inhibitors. (spandidos-publications.com)
Arm expression has a similar pattern but levels are reduced. (peerj.com)
In addition, transgenes inserted in order to be expressed from either the native PPP1R12C or an exogenous promoter displayed consistent levels of expression over many cell divisions. (genecopoeia.com)
In the present study, we determined the potential impact of selected CYP2A13 SNPs on levels of CYP2A13 expression in human lung. (aspetjournals.org)

The hormone resistin is a member of a novel family of cysteine-rich secreted proteins associated with pulmonary inflammation (FIZZ3) and expressed in the murine small bowel and adipose tissue ( 1 ). (diabetesjournals.org)

CONCLUSION: Our data demonstrate that the expression of Runx1 in the heart is age-dependent and underscore the importance of gene methylation in the promoter-mediated transcriptional control of Runx1, thereby providing new insights to the role of epigenetic regulation in the heart. (bvsalud.org)

[ 7 ] Thus, diverse biochemical mechanisms are responsible for altered protein function. (medscape.com)

Moreover, we describe experiments showing the presence of activated MKK4, a direct target of MAP3K4, and activated p38 in the coelomic region of the XY gonad at 11.5 d post coitum, establishing a link between MAPK signalling in proliferating gonadal somatic cells and regulation of Sry expression. (plos.org)
p62/Sequestosome 1 (p62) is a stress-induced protein that is involved in several different intracellular pathways, including regulation of aspects of protein degradation. (molvis.org)

Latest achievements involve production of medically important proteins like anti-clotting factors through expression of the gene in lactating cows, goats and pigs. (freeonlineresearchpapers.com)

What pathways are this gene/protein implicaed in? (cancerindex.org)

Gray triangles = other expression annotations only (e.g. absence of expression or data from mutants). (jax.org)
The investigators found that the resultant transfected cells showed defects in ATP2A2 protein expression (15 mutants), ATP hydrolysis (29 mutants), calcium transport (4 mutants), and calcium binding and kinetics (3 mutants). (medscape.com)
Compared to controls, in chem mutants in embryonic lateral epithelia Crumbs expression is mislocalized and reduced, Coracle is increased and mislocalized basally at embryonic stages 13-14, then reduced at stage 16. (peerj.com)

Results were validated in 135 homozygotes detected through other family and population studies. (nih.gov)
The protein encoded by this gene is a member of the tripartite motif (TRIM) family. (nih.gov)
FUNCTION: The protein encoded by this gene is a member of the nerve growth factor family. (utsouthwestern.edu)

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