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MT000009

UniProt Annotations

Entry Information

Gene Name	acyl-CoA dehydrogenase, short/branched chain
Protein Entry	ACDSB_HUMAN
UniProt ID	P45954
Species	Human

Comments

Comment type	Description
Alternative Products	Event=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 Activity	2-methylbutanoyl-CoA + electron-transfer flavoprotein = (E)-2-methylbut-2-enoyl-CoA + reduced electron- transfer flavoprotein + H(+).
Catalytic Activity	Acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor.
Cofactor	Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000269\|Ref.10};
Disease	Short/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.
Function	Has 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.
Pathway	Lipid metabolism; mitochondrial fatty acid beta- oxidation.
Similarity	Belongs to the acyl-CoA dehydrogenase family. {ECO:0000305}.
Subcellular Location	Mitochondrion matrix.
Subunit	Homotetramer. {ECO:0000269\|Ref.10}.
Tissue Specificity	Ubiquitous.