ACAD8
Function
Isobutyryl-CoA dehydrogenase which catalyzes the conversion of 2-methylpropanoyl-CoA to (2E)-2-methylpropenoyl-CoA in the valine catabolic pathway (PubMed:11013134, PubMed:12359132, PubMed:16857760). To a lesser extent, also able to catalyze the oxidation of (2S)-2-methylbutanoyl-CoA (PubMed:11013134, PubMed:12359132).
Involvement in disease
Isobutyryl-CoA dehydrogenase deficiency
IBDD
An autosomal recessive metabolic disorder characterized by plasma carnitine deficiency and elevated C4-acylcarnitine. Patients manifest variable clinical features including failure to thrive, seizures, anemia, muscular hypotonia and developmental delay. Some patients may be asymptomatic.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Amino-acid degradation; L-valine degradation.
Sequence Similarities
Belongs to the acyl-CoA dehydrogenase family.
Tissue Specificity
Detected at comparable levels in heart, lung, brain, skeletal muscle, pancreas and placenta. Weakly expressed in liver and kidney.
Cellular localization
- Mitochondrion
Alternative names
ARC42, IBD, ACAD8, IBDH, Activator-recruited cofactor 42 kDa component, Acyl-CoA dehydrogenase family member 8, ACAD-8