ACAD8 gene
acyl-CoA dehydrogenase family member 8
The ACAD8 gene provides instructions for making an enzyme called isobutyryl-CoA dehydrogenase (IBD). This enzyme is found in mitochondria, the energy-producing centers inside cells. The IBD enzyme is involved in breaking down proteins from food. Specifically, this enzyme is responsible for the third step in the breakdown of a protein building block (amino acid) called valine. The IBD enzyme converts a molecule called isobutyryl-CoA into a molecule called methylacrylyl-CoA. Other enzymes further break down methylacrylyl-CoA into molecules that cells can use for energy.
Related Information
At least 19 mutations in the ACAD8 gene have been found to cause isobutyryl-CoA dehydrogenase (IBD) deficiency. Some of these mutations reduce the activity of the IBD enzyme, while other mutations prevent the gene from producing any functional enzyme. As a result, valine is not broken down properly. An inability to process valine may lead to reduced energy production and the features of IBD deficiency.
Related Information
Cytogenetic Location: 11q25, which is the long (q) arm of chromosome 11 at position 25
Molecular Location: base pairs 134,253,538 to 134,265,858 on chromosome 11 (Homo sapiens Updated Annotation Release 109.20200228, GRCh38.p13) (NCBI)
Related Information
- ACAD-8
- ACAD8_HUMAN
- Activator-recruited cofactor 42 kDa component
- acyl-CoA dehydrogenase family, member 8
- acyl-coenzyme A dehydrogenase 8
- ARC42
- FLJ22590
Related Information
- OMIM: ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8
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- Roe CR, Cederbaum SD, Roe DS, Mardach R, Galindo A, Sweetman L. Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism. Mol Genet Metab. 1998 Dec;65(4):264-71.
- Sass JO, Sander S, Zschocke J. Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants. J Inherit Metab Dis. 2004;27(6):741-5.
- Yoo EH, Cho HJ, Ki CS, Lee SY. Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening. Clin Chem Lab Med. 2007;45(11):1495-7.