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MT000006

UniProt Annotations

Entry Information

Gene Name	acyl-CoA dehydrogenase, long chain
Protein Entry	ACADL_HUMAN
UniProt ID	P28330
Species	Human

Comments

Comment type	Description
Catalytic Activity	Long-chain-acyl-CoA + electron-transfer flavoprotein = long-chain-2,3-dehydroacyl-CoA + reduced electron- transfer flavoprotein.
Cofactor	Name=FAD; Xref=ChEBI:CHEBI:57692;
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. Note=The disease is caused by mutations affecting the gene represented in this entry.
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	Acetylation at Lys-318 and Lys-322 in proximity of the cofactor-binding sites strongly reduces catalytic activity. These sites are deacetylated by SIRT3 (By similarity). {ECO:0000250}.
Similarity	Belongs to the acyl-CoA dehydrogenase family. {ECO:0000305}.
Subcellular Location	Mitochondrion matrix.
Subunit	Homotetramer.