Gene Symbol: ACAD8
Description: acyl-CoA dehydrogenase family member 8
Alias: ACAD-8, ARC42, isobutyryl-CoA dehydrogenase, mitochondrial, activator-recruited cofactor 42 kDa component, acyl-Coenzyme A dehydrogenase family, member 8
Species: human
Products:     ACAD8

Top Publications

  1. Lanthaler B, Wieser S, Deutschmann A, Schossig A, Fauth C, Zschocke J, et al. Genotype-based databases for variants causing rare diseases. Gene. 2014;550:136-40 pubmed publisher
    ..The created databases include ACAD8 (isobutyryl-CoA dehydrogenase deficiency (IBD)), ACADSB (short-chain acyl-CoA dehydrogenase (SCAD) deficiency), ..
  2. Lin Y, Peng W, Jiang M, Lin C, Lin W, Zheng Z, et al. Clinical, biochemical and genetic analysis of Chinese patients with isobutyryl-CoA dehydrogenase deficiency. Clin Chim Acta. 2018;487:133-138 pubmed publisher
    ..IBDHD) is a rare autosomal recessive metabolic disorder related to valine catabolism and results from variants in ACAD8. Here, we present the clinical, biochemical, and genotypes of seven patients with IBDHD in China for the first ..
  3. Näär A, Beaurang P, Zhou S, Abraham S, Solomon W, Tjian R. Composite co-activator ARC mediates chromatin-directed transcriptional activation. Nature. 1999;398:828-32 pubmed
    ..Thus, ARC/DRIP is a large composite co-activator that belongs to a family of related cofactors and is targeted by different classes of activator to mediate transcriptional stimulation. ..
  4. Telford E, Moynihan L, Markham A, Lench N. Isolation and characterisation of a cDNA encoding the precursor for a novel member of the acyl-CoA dehydrogenase gene family. Biochim Biophys Acta. 1999;1446:371-6 pubmed
    ..The cDNA contains an open reading frame of 1248 nucleotides encoding a predicted 415-amino-acid peptide, and shares considerable sequence similarity with other members of the ACD family. ..
  5. Andresen B, Christensen E, Corydon T, Bross P, Pilgaard B, Wanders R, et al. Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine . Am J Hum Genet. 2000;67:1095-103 pubmed
    ..In conclusion, we report the first mutation in the SBCAD gene, show that it results in an isolated defect in isoleucine catabolism, and indicate that ACAD-8 is a mitochondrial enzyme that functions in valine catabolism. ..
  6. Nguyen T, Andresen B, Corydon T, Ghisla S, Abd El Razik N, Mohsen A, et al. Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. Mol Genet Metab. 2002;77:68-79 pubmed
    ..We have used expression in Escherichia coli to produce a previously uncharacterized ACD-like sequence (ACAD8) and define its substrate specificity. Purified recombinant enzyme had a k(cat)/K(m) of 0.8, 0.23, and 0...
  7. Battaile K, Nguyen T, Vockley J, KIM J. Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenases. J Biol Chem. 2004;279:16526-34 pubmed
    ..Three clinical mutations have been modeled to the structure. The mutations do not affect substrate binding but instead appear to disrupt protein folding and/or stability. ..
  8. Wollmer M, Sleegers K, Ingelsson M, Zekanowski C, Brouwers N, Maruszak A, et al. Association study of cholesterol-related genes in Alzheimer's disease. Neurogenetics. 2007;8:179-88 pubmed
    ..The genes HMGCS2, FDPS, RAFTLIN, ACAD8, NPC2, and ABCG1 were associated with AD at a significance level of P < or = 0.05 in this sample...
  9. Calvo S, Compton A, Hershman S, Lim S, Lieber D, Tucker E, et al. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med. 2012;4:118ra10 pubmed publisher
    ..The pathogenicity of two such genes, NDUFB3 and AGK, was supported by complementation studies and evidence from multiple patients, respectively. The results underscore the potential and challenges of deploying NGS in clinical settings. ..

More Information


  1. Yun J, Jo K, Woo H, Lee S, Ki C, Kim J, et al. A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum. Clin Genet. 2015;87:196-8 pubmed publisher