ACAD8

ACAD8
Identifiers
AliasesACAD8, ACAD-8, ARC42, acyl-CoA dehydrogenase family member 8, IBDH
External IDsOMIM: 604773; MGI: 1914198; GeneCards: ACAD8
Available structures
PDBOrtholog search: PDBe RCSB
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
1.3.8.5↗↗↗↗
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

27034

66948

Ensembl

ENSG00000151498

ENSMUSG00000031969

UniProt

Q9UKU7

Q9D7B6

RefSeq (mRNA)

NM_014384

NM_025862

RefSeq (protein)

NP_055199

NP_080138

Location (UCSC)Chr 11: 134.25 – 134.27 MbChr 9: 26.89 – 26.91 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Isobutyryl-CoA dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ACAD8 gene on chromosome 11.[5][6]

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.

Structure

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.[7]

Clinical significance

Mutations in ACAD8 have been linked to isobutyryl-CoA dehydrogenase deficiency.[8] Most patients with isobutyryl-CoA dehydrogenase deficiency are asymptotic, but children have also been observed to develop dilated cardiomyopathy.[9]

Function

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.[8] ACAD8 is responsible for the third step in the breakdown of valine and converts isobutyryl-CoA into methylacrylyl-CoA.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000151498 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031969 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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 (BBA) - Gene Structure and Expression. 1446 (3): 371–6. doi:10.1016/s0167-4781(99)00102-5. PMID 10524212.
  6. ^ "Entrez Gene: ACAD8 acyl-Coenzyme A dehydrogenase family, member 8".
  7. ^ 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. doi:10.1074/jbc.M400034200. PMID 14752098.
  8. ^ a b 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" (PDF). Mol. Genet. Metab. 77 (1–2): 68–79. doi:10.1016/S1096-7192(02)00152-X. PMID 12359132.
  9. ^ Isobutyryl-CoA dehydrogenase deficiency. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79159. Accessed 2/8/2010.

Further reading


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