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MT000010

UniProt Annotations

Entry Information

Gene Name	acyl-CoA dehydrogenase, very long chain
Protein Entry	ACADV_HUMAN
UniProt ID	P49748
Species	Human

Comments

Comment type	Description
Alternative Products	Event=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 Activity	A very-long-chain acyl-CoA + electron-transfer flavoprotein = a very-long-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein.
Cofactor	Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000269\|PubMed:18227065};
Disease	Acyl-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.
Function	Active 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}.
Miscellaneous	A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues.
Pathway	Lipid metabolism; mitochondrial fatty acid beta- oxidation.
Ptm	S-nitrosylation at Cys-237 in liver improves catalytic efficiency. {ECO:0000250}.
Similarity	Belongs to the acyl-CoA dehydrogenase family. {ECO:0000305}.
Subcellular Location	Mitochondrion inner membrane.
Subunit	Homodimer. {ECO:0000269\|PubMed:18227065}.