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MGP000021

UniProt Annotations

Entry Information
Gene Nameacyl-CoA dehydrogenase, short/branched chain
Protein EntryACDSB_HUMAN
UniProt IDP45954
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P45954-1; Sequence=Displayed; Name=2; IsoId=P45954-2; Sequence=VSP_055778; Note=No experimental confirmation available.;
Catalytic Activity2-methylbutanoyl-CoA + electron-transfer flavoprotein = (E)-2-methylbut-2-enoyl-CoA + reduced electron- transfer flavoprotein + H(+).
Catalytic ActivityAcyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor.
CofactorName=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000269|Ref.10};
DiseaseShort/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]: Autosomal recessive disorder and consists of a defect in catabolism of L-isoleucine which is characterized by an increase of 2-methylbutyrylglycine and 2- methylbutyrylcarnitine in blood and urine. Affected individuals have seizures and psychomotor delay as the main clinical features. {ECO:0000269|PubMed:10832746, ECO:0000269|PubMed:16317551}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionHas greatest activity toward short branched chain acyl- CoA derivative such as (s)-2-methylbutyryl-CoA, isobutyryl-CoA, and 2-methylhexanoyl-CoA as well as toward short straight chain acyl-CoAs such as butyryl-CoA and hexanoyl-CoA. Can use valproyl- CoA as substrate and may play a role in controlling the metabolic flux of valproic acid in the development of toxicity of this agent.
PathwayLipid metabolism; mitochondrial fatty acid beta- oxidation.
SimilarityBelongs to the acyl-CoA dehydrogenase family. {ECO:0000305}.
Subcellular LocationMitochondrion matrix.
SubunitHomotetramer. {ECO:0000269|Ref.10}.
Tissue SpecificityUbiquitous.
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