Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial
Function
Short and branched chain specific acyl-CoA dehydrogenase that catalyzes the removal of one hydrogen from C-2 and C-3 of the fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (PubMed:10832746, PubMed:11013134, PubMed:21430231, PubMed:7698750). Among the different mitochondrial acyl-CoA dehydrogenases, acts specifically on short and branched chain acyl-CoA derivatives such as (S)-2-methylbutyryl-CoA as well as short straight chain acyl-CoAs such as butyryl-CoA (PubMed:10832746, PubMed:11013134, PubMed:21430231, PubMed:7698750). Plays an important role in the metabolism of L-isoleucine by catalyzing the dehydrogenation of 2-methylbutyryl-CoA, one of the steps of the L-isoleucine catabolic pathway (PubMed:10832746, PubMed:11013134). Can also act on valproyl-CoA, a metabolite of valproic acid, an antiepileptic drug (PubMed:8660691).
Involvement in disease
Short/branched-chain acyl-CoA dehydrogenase deficiency
SBCADD
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Lipid metabolism; mitochondrial fatty acid beta-oxidation.
Amino-acid degradation; L-isoleucine degradation.
Sequence Similarities
Belongs to the acyl-CoA dehydrogenase family.
Tissue Specificity
Ubiquitously expressed.
Cellular localization
- Mitochondrion matrix
Alternative names
SBCAD, 2-methyl branched chain acyl-CoA dehydrogenase, 2-methylbutyryl-coenzyme A dehydrogenase, 2-MEBCAD, 2-methylbutyryl-CoA dehydrogenase, ACADSB