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Template:Infobox gene Isobutyryl-CoA dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ACAD8 gene on chromosome 11.[1][2]

The protein encoded by ACAD8 is a mitochondrial protein belongs to the acyl-CoA dehydrogenase family of enzymes, which function to catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branched-chain amino acids. ACAD8 functions in catabolism of the branched-chain amino acid valine.


ACAD8 functions as a homotetramer and has an overall structure is similar to other acyl-CoA dehydrogenases. The functional protein contains an NH2-terminal alpha-helical domain, a medial beta-strand domain and a C-terminal alpha-helical domain.[3]

Clinical significance

Mutations in ACAD8 have been linked to isobutyryl-CoA dehydrogenase deficiency.[4] Most patients with isobutyryl-CoA dehydrogenase deficiency are asymptotic, but children have also been observed to develop dilated cardiomyopathy.[5]


ACAD8 is an isobutyryl-CoA dehydrogenase that functions in the catabolism of branched-chain amino acids including valine, and shows high reactivity toward isobutyryl-CoA.[4] ACAD8 is responsible for the third step in the breakdown of valine and converts isobutyryl-CoA into methylacrylyl-CoA.


  1. Telford EA, Moynihan LM, Markham AF, Lench NJ (Sep 1999). "Isolation and characterisation of a cDNA encoding the precursor for a novel member of the acyl-CoA dehydrogenase gene family". Biochimica et Biophysica Acta. 1446 (3): 371–6. PMID 10524212. doi:10.1016/s0167-4781(99)00102-5. 
  2. "Entrez Gene: ACAD8 acyl-Coenzyme A dehydrogenase family, member 8". 
  3. Battaile KP, Nguyen TV, Vockley J, Kim JJ (2004). "Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenases". J. Biol. Chem. 279 (16): 16526–34. PMID 14752098. doi:10.1074/jbc.M400034200. 
  4. 4.0 4.1 Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J (2002). "Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans". Mol. Genet. Metab. 77 (1–2): 68–79. PMID 12359132. doi:10.1016/S1096-7192(02)00152-X. 
  5. Isobutyryl-CoA dehydrogenase deficiency. Orphanet. 2007; Accessed 2/8/2010.

External links

Further reading

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