Acyl coa dehydrogenase gene. Medical search. Frequent questions

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). (medlineplus.gov)
Mutations in the ACADM gene cause MCAD deficiency. (medlineplus.gov)
Mutations in the ACADM gene lead to a shortage (deficiency) of the MCAD enzyme within cells. (medlineplus.gov)
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. (medlineplus.gov)
Dezateux C. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: evaluating the effects on outcome. (medlineplus.gov)
Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. (medlineplus.gov)
Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency. (medlineplus.gov)
It has also been linked to an inherited enzyme deficiency called long chain acyl-CoA dehydrogenase (LCHAD) in the baby. (britishlivertrust.org.uk)
Very-Long-Chain Acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder caused by mutations in the ACADVL gene. (myriad.com)
All three types of VLCAD deficiency are caused by an error in the production of an enzyme called very-long-chain acyl-coenzyme A dehydrogenase. (myriad.com)
What Is the Prognosis for an Individual with Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency? (myriad.com)
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) is an autosomal recessively inherited disorder of ß-oxidation of fatty acids. (medicover-genetics.com)
MCAD deficiency is caused by pathogenic variants in the medium-chain acyl-CoA dehydrogenase gene ( ACADM ). (medicover-genetics.com)
In 1983, Gregersen et al demonstrated a medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency in a patient with hypoketotic hypoglycemia. (medscape.com)
Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening]. (bvsalud.org)
To investigate the clinical manifestations, biochemical abnormalities and pathogenic variants among children with Short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency detected by neonatal screening . (bvsalud.org)
Suspected SBCAD deficiency patients were diagnosed by urine organic acid analysis and high-throughput gene sequencing analysis . (bvsalud.org)
Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). (nih.gov)
Deficiency of SBCAD leads to accumulation of its substrate, 2-methylbutyryl-CoA within the mitochondrion. (hmdb.ca)
17883863 ). 2-methylbutyrylglycine has also been found in the urine of patients with propionyl-CoA carboxylase deficiency after consuming isoleucine. (hmdb.ca)
Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency, also known as 2-methylbutyryl-CoA dehydrogenase deficiency, is a recently described autosomal recessive disorder of isoleucine metabolism. (elsevierpure.com)
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency), amino acid disorders (e.g. (luriechildrens.org)
Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency. (cdc.gov)

The medium chain acyl-CoA dehydrogenase (MCAD) is the best known structure of all ACADs, and is the most commonly deficient enzyme within the class that leads to metabolic disorders in animals. (wikipedia.org)
MCAD can bind to a rather broad range of chain-lengths in the acyl-CoA substrate, however studies show that its specificity tends to target octanoyl-CoA (C8-CoA). (wikipedia.org)
The flavoenzyme medium-chain acyl-CoA dehydrogenase (MCAD) eliminates the alpha-proton of the substrate analog, 3-thiaoctanoyl-CoA (3S-C8-CoA), to form a charge-transfer complex with deprotonated 3S-C8-CoA. (rcsb.org)
The crystalline complex was obtained by co-crystallizing MCAD in the oxidized form with 3S-C8-CoA. (rcsb.org)
This A-to-G transition occurred at position 985 (G985) of the coding region of the MCAD gene. (coriell.org)

Short-chain acyl-CoA dehydrogenase (SCAD) activity in muscle was normal as were mitochondrial OXPHOS enzyme activities in cultured skin fibroblasts. (nih.gov)
This acyl-CoA is linked to carnitine by the action of CPT I, with simultaneous transport across the mitochondrial membrane barrier. (medscape.com)
Oral high-dose coenzyme Q 10 is usually effective to treat mitochondrial disorders that are caused by mutations in coenzyme Q 10 biosynthetic genes . (oregonstate.edu)
This substance is transesterified with glycine by the mitochondrial enzyme acyl-CoA glycine-N-acyltransferase (glycine-N-acylase) to form 2-methylbutyryl glycine. (hmdb.ca)
Background: Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with lactic acidosis and cardiomyopathy. (eur.nl)
An enzyme that catalyzes reversibly the conversion of palmitoyl-CoA to palmitoylcarnitine in the inner mitochondrial membrane. (lookformedical.com)
[ 11 ] In the CALERIE phase 1 study, however, we demonstrated that 6 months of 25% CR in healthy human s increased the expression of genes involved in mitochondrial biogenesis and mitochondrial DNA (mtDNA) copy number. (medscape.com)

Long-chain acyl coenzyme A dehydrogenase (ACADL) is the first step in catalytic fatty acid oxidation and plays an important role in long-chain fatty acid oxidation including expression regulation and activity regulation. (animbiosci.org)

Entry into the beta-oxidation cycle requires the action of acyl-CoA dehydrogenase, the first enzyme in the sequence, which removes electrons from the alpha-carbon and the beta-carbon, introducing a double bond. (medscape.com)
Acetyl CoA is generated from fatty acids through repeated beta-oxidation cycles. (msdmanuals.com)
The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. (nih.gov)

This gene provides instructions for making an enzyme called medium-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called medium-chain fatty acids. (medlineplus.gov)
Structure of the transition state analog of medium-chain acyl-CoA dehydrogenase. (rcsb.org)
Sets of 4 enzymes (an acyl dehydrogenase, a hydratase, a hydroxyacyl dehydrogenase, and a lyase) specific for different chain lengths (very long chain, long chain, medium chain, and short chain) are required to catabolize fatty acids completely. (msdmanuals.com)
EC 1.3.8.1 , short-chain acyl-CoA dehydrogenase, EC 1.3.8.8, medium-chain acyl-CoA dehydrogenase, and EC 1.3.8.9 , very-long-chain acyl-CoA dehydrogenase. (enzyme-database.org)
Ikeda, Y., Ikeda, K.O. and Tanaka, K. Purification and characterization of short-chain, medium-chain, and long-chain acyl-CoA dehydrogenases from rat liver mitochondria. (enzyme-database.org)

This class of ACAD was demonstrated to form α2β2 heterotetramers, rather than the usual α4 homotetramer, a protein architecture that evolved in order to accommodate a much larger steroid-CoA substrate. (wikipedia.org)
The ETFA and ETFB genes provide instructions for producing two protein segments, or subunits, that come together to make an enzyme called electron transfer flavoprotein. (medlineplus.gov)
This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. (utsouthwestern.edu)
Only the P8 strain has a frameshifted fabF gene (EC: FabF - OG_1821) and strain NAB2 is missing a 34 amino acid long internal part section of the FabK protein (EC: fabK - OG_2142). (ens-lyon.fr)
A defective gene and its protein product leads to thick sticky mucus. (nsu.govt.nz)

The Bckdh complex catalyzes the oxidative decarboxylation of branched chain ketoacids to their corresponding acyl-CoA esters, during the catabolism of leucine, isoleucine and valine. (nih.gov)
Enzymes from the transferase class that catalyze the transfer of acyl groups from donor to acceptor, forming either esters or amides. (lookformedical.com)
Regulation of the intramitochondrial free CoA also is affected, with accumulation of acyl-CoA esters in the mitochondria. (medscape.com)

MSMEG_4826 MSMEG_4826 Acyl-CoA dehydrogenase fadE1 (EC 1.3.99. (systemsbiology.net)

Once inside the mitochondrion, the action of CPT II at the inner surface of the membrane releases free carnitine, which exits to the cytosol and leaves behind the acyl-CoA molecule. (medscape.com)
Carnitine binds acyl residues and helps in their elimination, decreasing the number of acyl residues conjugated with coenzyme A (CoA) and increasing the ratio between free and acylated CoA. (medscape.com)

which means both copies of the gene in each cell have mutations. (medlineplus.gov)
Mutations in any of three genes, ETFA , ETFB , and ETFDH , can result in glutaric acidemia type II. (medlineplus.gov)
People with mutations that result in a complete loss of either enzyme produced from the ETFA , ETFB or ETFDH genes are likely to experience the most severe symptoms of glutaric acidemia type II. (medlineplus.gov)
Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene. (medlineplus.gov)
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
In humans, certain mutations in this gene cause maple syrup urine disease. (nih.gov)
Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. (utsouthwestern.edu)
Zettner MA, Flor S, Ludewig G, Wagner J, Robertson LW, Lehmann L. Quinoid metabolites of 4-monochlorobiphenyl induce gene mutations in cultured Chinese hamster v79 cells. (who.int)

Their action results in the introduction of a trans double-bond between C2 (α) and C3 (β) of the acyl-CoA thioester substrate. (wikipedia.org)
There are a total of 4 active sites within the tetramer, each of which contains a single FAD molecule and an acyl-CoA substrate binding site. (wikipedia.org)
This gives a total of four FAD molecules and four acyl-CoA substrate binding sites per enzyme. (wikipedia.org)
The acyl-CoA substrate is bound completely within each monomer of the enzyme. (wikipedia.org)
This probably allowed for the substrate binding site to open up considerably to accommodate much larger polycyclic-CoA substrates, rather than fatty acids of varying chain lengths. (wikipedia.org)

It is these differentially expressed genes that frequently control cell differentiation, define cell-specific phenotypes, and provide the core signature of cell identity. (biomedcentral.com)
By focusing on identifying differentially expressed genes, it turns a more complex model-fitting problem into a classification problem [ 9 ], opening the door to algorithms that may be more sensitive, especially for rare and difficult-to-isolate cell types. (biomedcentral.com)
Differentially expressed genes in the left atria of mitral regurgitation (MR) pigs have been linked to peroxisome proliferator-activated receptor (PPAR) signaling pathway in the KEGG pathway. (biomedcentral.com)
Differentially expressed genes of the PPAR pathway have been identified in the left atria of MR patients compared with patients with aortic valve disease and normal controls. (biomedcentral.com)
Interestingly, gene ontology and pathway enrichment analysis of the differentially expressed genes in that study showed that peroxisome proliferator-activated receptor (PPAR) signaling pathway was identified in the KEGG pathway. (biomedcentral.com)

Augmentation of bacterial energy generation by auxiliary metabolic genes has been reported for phages with smaller genomes. (nature.com)
The PPARs are ligand activated transcription factors that regulate genes important in cell differentiation, various metabolic processes, especially lipid and glucose homeostasis, insulin sensitivity, control of inflammatory processes and vascular integrity [ 6 ]. (biomedcentral.com)
The only other gene that is found is a acyl-CoA dehydrogenase (EC: 1.3.8.7/1.3.99 - OG_1654), but this gene is also found in other metabolic pathways. (ens-lyon.fr)

The arrangement between the flavin ring and deprotonated 3S-C8-CoA is consistent with a charge transfer interaction with the negatively charged acyl-chain of 3S-C8-CoA as an electron donor stacking on the pyrimidine moiety of the flavin ring as an electron acceptor. (rcsb.org)
Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a short branched chain fatty acid residue. (umassmed.edu)
In the absence of electron acceptor, downregulation of F 420 H 2 dependent steps of the acetyl-CoA pathway is linked to transient formate generation. (hindawi.com)

Acyl-CoA dehydrogenases (ACADs) are a class of enzymes that function to catalyze the initial step in each cycle of fatty acid β-oxidation in the mitochondria of cells. (wikipedia.org)

The following reaction is the oxidation of the fatty acid by FAD to afford an α,β-unsaturated fatty acid thioester of Coenzyme A: ACADs can be categorized into three distinct groups based on their specificity for short-, medium-, or long-chain fatty acid acyl-CoA substrates. (wikipedia.org)
a long-chain acyl-CoA = an acyl-CoA thioester where the acyl chain contains 13 to 22 carbon atoms. (enzyme-database.org)

Acyl-CoA dehydrogenase [Ensembl]. (ntu.edu.sg)
Possible acyl-CoA dehydrogenase FadE19 (MMGC) [Ensembl]. (ntu.edu.sg)

We obtained the ACADL gene of goats by cloning and used quantitative real-time polymerase chain reaction (qPCR) to detect the ACADL expression patterns of different goat tissues and subcutaneous fat cells at different lipid induction stages. (animbiosci.org)
Most frequently the process consists of the reaction of an acid with an alcohol in the presence of a trace of mineral acid as catalyst or the reaction of an acyl chloride with an alcohol. (lookformedical.com)

The aim of this study was to clone the mRNA sequence of the Acyl-CoA dehydrogenase long chain ( ACADL ) gene of goats and explore the effect of ACADL on the differentiation of subcutaneous fat cells on this basis. (animbiosci.org)
PCR and bidirectional sequencing were performed on genomic DNA from five of the patients covering the entire SBCAD (ACADSB) gene sequence of 11 exons. (elsevierpure.com)
Sequence analysis of genomic DNA from each patient identified variations in the SBCAD gene not previously reported. (elsevierpure.com)
PCR-amplified mycobacterial genes are sequence-specifically captured on microspheres, labeled by magnetic nanoprobes, and detected by nuclear magnetic resonance. (cdc.gov)

Of manually curated genomes, 22 (18 are complete), ranging from 159 kilobase (kb) to 527 kb in length, were found to encode the pmoC gene, an enzymatically critical subunit of the particulate methane monooxygenase, the predominant methane oxidation catalyst in nature. (nature.com)
In the present study, we searched the unreported phage genomic fragments from this lake for genes involved in methane oxidation. (nature.com)
Oxidation of the hydroxyl substituent group on the beta-carbon creates an inherently unstable beta-ketoacyl-CoA compound. (medscape.com)
The CdhAB-2 combines with acetyl-CoA synthase (ACS) [ 10 ] and operates in the acetyl-CoA pathway for complete oxidation of lactate to CO 2 [ 12 , 13 ]. (hindawi.com)

The enzyme from pig liver can accept substrates with acyl chain lengths of 6 to at least 16 carbon atoms. (enzyme-database.org)

While different dehydrogenases target fatty acids of varying chain length, all types of ACADs are mechanistically similar. (wikipedia.org)

However, specific genes of the PPAR signaling pathway in the left atria of MR patients have never been explored. (biomedcentral.com)
We used PCR assay (84 genes) for PPAR pathway and quantitative RT-PCR to study specific genes of the PPAR pathway in the left atria. (biomedcentral.com)
In this study, we aim to explore the key element genes of the PPAR signaling pathway that were differentially expressed in the left atrial myocardium of MR patients vs. normal controls. (biomedcentral.com)
The results from this study may identify specific genes of the PPAR signaling pathway that might be responsible for the atrial structural remodeling associated with atrial enlargement and progression of heart failure in patients with MR. (biomedcentral.com)
Fqo can be hypothesized to be operative during sulfate reduction with CO. The Fqo complex receives electrons from the reduced coenzyme F 420 (F 420 H 2 ), generated from the oxidative acetyl-CoA pathway, and transfers electrons to the membrane-bound respiratory chain by the reduction of menaquinone [ 16 - 18 ]. (hindawi.com)
The KEGG pathway database indicates that Lactobacillus plantarum strain WCFS1 has three paralog genes for the fabG gene. (ens-lyon.fr)
A manual search for gene in this pathway found only a plasmid-encoded long-chain-fatty-acid-CoA ligase (EC: 6.2.1.3 - OG_5234) in strain NIZO2029. (ens-lyon.fr)
This is the first gene in the pathway. (ens-lyon.fr)

The remaining MEHP is excreted directly in the urine or is oxidized by cytochrome P450 4A, then further oxidized by alcohol dehydrogenase (ADH) or aldehyde dehydrogenase (ALDH) to dicarboxylic acid or ketones. (who.int)

This enzyme's action represents the first step in fatty acid metabolism (the process of breaking long chains of fatty acids into acetyl CoA molecules). (wikipedia.org)
Bacteriophages (phages), viruses that infect and replicate within bacteria, are important in both natural and human microbiomes because they prey on bacterial hosts, mediate horizontal gene transfer, alter host metabolism and redistribute bacterially derived compounds via host cell lysis 1 . (nature.com)
The recently reported phage genomes range up to 735 kb in length and encode a diversity of genes involved in transcription and translation, as well as genes that may augment host metabolism 2 . (nature.com)
However, the excretion of certain acyl glycines is increased in several inborn errors of metabolism, such as propionic acidemia. (hmdb.ca)

However, the genotype-to-phenotype correlation is variable on the gene level and more accurate when described by a specific mutation. (medscape.com)
Mutation analysis of the ETHE1 gene demonstrated homozygosity for the Arg163Gly mutation, confirming the diagnosis of EE at a molecular level. (nih.gov)

The ETFDH gene provides instructions for making another enzyme called electron transfer flavoprotein dehydrogenase. (medlineplus.gov)

The large stabilization energy by charge transfer probably plays an important role in determining the alignment of the flavin ring with 3S-C8-CoA. (rcsb.org)

Most acyl-CoA dehydrogenases are α4 homotetramers, and in two cases (for very long chain fatty acid substrates) they are α2 homodimers. (wikipedia.org)

2-Methylbutyrylglycine is an acyl glycine. (hmdb.ca)

In the OG database this gene is annotated as a short-chain dehydrogenase instead of a 3-oxoacyl-ACP reductase ( fabG1 - OG_1852) or 3-ketoacyl-ACP reductase ( fabG2 - OG_1542). (ens-lyon.fr)

An additional class of acyl-CoA dehydrogenase was discovered that catalyzes α,β-unsaturation reactions with steroid-CoA thioesters in certain types of bacteria. (wikipedia.org)
Growth on CO requires the enzyme carbon monoxide dehydrogenase (CODH) that catalyzes the reversible conversion between CO and CO 2 . (hindawi.com)

The structure was most likely the result of an evolutionary event that caused gene duplication and partial loss of function, since half of the FAD cofactor binding residues are in each gene, and only make a complete binding site when expressed together as a complex. (wikipedia.org)

The other gene has no gene name in KEGG. (ens-lyon.fr)

An apparent pseudogene of this gene is present on chromosome 8. (nih.gov)
A pseudogene for this gene has been identified. (nih.gov)
But in some strains one of the paralog genes is a pseudogene. (ens-lyon.fr)

Cleavage of the 3-keto compound at the now unstable alpha-beta carbon bond and transfer of another CoA moiety to the new fragment results in 2 products: acetyl-CoA, composed of the carbonyl and original alpha-carbon from the starting molecule, and a new fatty acyl-CoA that is 2 carbons shorter than the original molecule. (medscape.com)

In the cytosol, a saturated, straight-chain fatty acid molecule with no double bonds is activated by the action of fatty acyl-CoA synthetase to form its corresponding acyl-CoA. (medscape.com)
The next step is the introduction of a water molecule and resaturation of the double bond to form fatty enoyl-CoA. (medscape.com)

Occasionally, these result in phenotypic overlap between genes as well as genes causing congenital myopathy to occasionally have phenotypes more consistent with congenital muscular dystrophies, limb-girdle muscular dystrophies, or even possible neuropathic or neuromuscular junction diseases. (medscape.com)

Impaired growth and neurological abnormalities in branched-chain alpha-keto acid dehydrogenase kinase-deficient mice. (nih.gov)

Disruption of the BDK gene establishes that regulation of BCKDH by phosphorylation is critically important for the regulation of oxidative disposal of branched-chain amino acids. (nih.gov)

If expression of a trait requires only one copy of a gene (one allele). (msdmanuals.com)

Molecular cloning and analysis of the expression of the E1 beta subunit of branched chain alpha-ketoacid dehydrogenase in mice. (nih.gov)

Finally, functional experiments revealed a synergistic effect of long chain fatty acids in combination with dihydrotestosterone administration on the transcription of androgen responsive genes. (biomedcentral.com)

FH, PH and RAS Kit analyzes 11, 11 and 30 genes and covers Familial Hypercholesterolemia (FH), Pulmonary Hypertension (PH) and RASopathy (RAS) related disorders, respectively. (medicover-genetics.com)
Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)

Anatomy3

Organisms1

Diseases1

Chemicals and Drugs91

Analytical, Diagnostic and Therapeutic Techniques and Equipment4

Phenomena and Processes21

Information Science4

Deficiency23

MCAD5

Mitochondrial7

Coenzyme A dehydrogenase1

Beta-oxidation3

MEDIUM-CHAIN5

Protein5

Esters3

FadE11

Carnitine2

Mutations8

Substrate5

Differentially expressed genes5

Metabolic3

Acceptor3

Mitochondria1

Thioester2

Ensembl2

Reaction2

Sequence4

Oxidation4

Chain lengths1

ACADs1

Pathway8

Aldehyde1

Metabolism4

Mutation2

Electron transfer1

Flavin1

Substrates1

Glycine1

Short chain1

Catalyzes2

Residues1

KEGG1

Pseudogene3

Moiety1

Molecule2

Phenotypes1

Kinase1

Oxidative1

Allele1

Molecular1

Long1

Disorders2