MitoProteome Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins

MT000007

UniProt Annotations

Entry Information

Gene Name	acyl-CoA dehydrogenase, C-4 to C-12 straight chain
Protein Entry
UniProt ID	Q5HYG7
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P11310-1; Sequence=Displayed; Name=2; IsoId=P11310-2; Sequence=VSP_038420;
Catalytic Activity	A medium-chain acyl-CoA + electron-transfer flavoprotein = a medium-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein.
Cofactor	Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000269\|PubMed:8823176};
Disease	Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]: An inborn error of mitochondrial fatty acid beta- oxidation which causes fasting hypoglycemia, hepatic dysfunction and encephalopathy, often resulting in death in infancy. {ECO:0000269\|PubMed:10767181, ECO:0000269\|PubMed:11349232, ECO:0000269\|PubMed:11409868, ECO:0000269\|PubMed:11486912, ECO:0000269\|PubMed:1671131, ECO:0000269\|PubMed:1684086, ECO:0000269\|PubMed:1902818, ECO:0000269\|PubMed:2251268, ECO:0000269\|PubMed:2393404, ECO:0000269\|PubMed:2394825, ECO:0000269\|PubMed:7603790, ECO:0000269\|PubMed:7929823, ECO:0000269\|PubMed:8198141, ECO:0000269\|PubMed:9158144}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	This enzyme is specific for acyl chain lengths of 4 to 16.
Miscellaneous	A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues.
Miscellaneous	Utilizes the electron transfer flavoprotein (ETF) as electron acceptor that transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase).
Pathway	Lipid metabolism; mitochondrial fatty acid beta- oxidation.
Ptm	Acetylation at Lys-307 and Lys-311 in proximity of the cofactor-binding sites reduces catalytic activity (By similarity). These sites are deacetylated by SIRT3. {ECO:0000250, ECO:0000269\|PubMed:19608861}.
Similarity	Belongs to the acyl-CoA dehydrogenase family. {ECO:0000305}.
Subcellular Location	Mitochondrion matrix.
Subunit	Homotetramer. Interacts with the heterodimeric electron transfer flavoprotein ETF. {ECO:0000269\|PubMed:15159392, ECO:0000269\|PubMed:15975918, ECO:0000269\|PubMed:8823176}.