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MGP000022

UniProt Annotations

Entry Information
Gene Nameacyl-CoA dehydrogenase, very long chain
Protein EntryACADV_HUMAN
UniProt IDP49748
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P49748-1; Sequence=Displayed; Name=2; IsoId=P49748-2; Sequence=VSP_007734; Note=No experimental confirmation available.; Name=3; IsoId=P49748-3; Sequence=VSP_046031; Note=No experimental confirmation available.;
Catalytic ActivityA very-long-chain acyl-CoA + electron-transfer flavoprotein = a very-long-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein.
CofactorName=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000269|PubMed:18227065};
DiseaseAcyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]: An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting. {ECO:0000269|PubMed:10077518, ECO:0000269|PubMed:8554073, ECO:0000269|PubMed:9546340}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionActive toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, mysritoyl-CoA and stearoyl-CoA. Can accommodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for substrates of less than 12 carbons. {ECO:0000269|PubMed:18227065}.
MiscellaneousA number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues.
PathwayLipid metabolism; mitochondrial fatty acid beta- oxidation.
PtmS-nitrosylation at Cys-237 in liver improves catalytic efficiency. {ECO:0000250}.
SimilarityBelongs to the acyl-CoA dehydrogenase family. {ECO:0000305}.
Subcellular LocationMitochondrion inner membrane.
SubunitHomodimer. {ECO:0000269|PubMed:18227065}.
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