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Genetics Home Reference: your guide to understanding genetic conditions
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ACAD8

Reviewed June 2010

What is the official name of the ACAD8 gene?

The official name of this gene is “acyl-CoA dehydrogenase family, member 8.”

ACAD8 is the gene's official symbol. The ACAD8 gene is also known by other names, listed below.

What is the normal function of the ACAD8 gene?

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.

How are changes in the ACAD8 gene related to health conditions?

isobutyryl-CoA dehydrogenase deficiency - caused by mutations in the ACAD8 gene

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.

Where is the ACAD8 gene located?

Cytogenetic Location: 11q25

Molecular Location on chromosome 11: base pairs 134,253,536 to 134,265,854

The ACAD8 gene is located on the long (q) arm of chromosome 11 at position 25.

The ACAD8 gene is located on the long (q) arm of chromosome 11 at position 25.

More precisely, the ACAD8 gene is located from base pair 134,253,536 to base pair 134,265,854 on chromosome 11.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about ACAD8?

You and your healthcare professional may find the following resources about ACAD8 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ACAD8 gene or gene products?

  • ACAD-8
  • ACAD8_HUMAN
  • Activator-recruited cofactor 42 kDa component
  • acyl-coenzyme A dehydrogenase 8
  • ARC42
  • FLJ22590

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ACAD8?

amino acid ; breakdown ; CoA ; coenzyme A ; cofactor ; deficiency ; dehydrogenase ; enzyme ; gene ; mitochondria ; molecule ; protein ; valine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • OMIM: ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8 (http://omim.org/entry/604773)
  • Koeberl DD, Young SP, Gregersen NS, Vockley J, Smith WE, Benjamin DK Jr, An Y, Weavil SD, Chaing SH, Bali D, McDonald MT, Kishnani PS, Chen YT, Millington DS. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res. 2003 Aug;54(2):219-23. Epub 2003 May 7. (http://www.ncbi.nlm.nih.gov/pubmed/12736383?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/27034)
  • Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J. Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. Mol Genet Metab. 2002 Sep-Oct;77(1-2):68-79. (http://www.ncbi.nlm.nih.gov/pubmed/12359132?dopt=Abstract)
  • Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med. 2007 Feb;9(2):108-16. (http://www.ncbi.nlm.nih.gov/pubmed/17304052?dopt=Abstract)
  • Pedersen CB, Bischoff C, Christensen E, Simonsen H, Lund AM, Young SP, Koeberl DD, Millington DS, Roe CR, Roe DS, Wanders RJ, Ruiter JP, Keppen LD, Stein Q, Knudsen I, Gregersen N, Andresen BS. Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. Pediatr Res. 2006 Sep;60(3):315-20. Epub 2006 Jul 20. (http://www.ncbi.nlm.nih.gov/pubmed/16857760?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/9889013?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15505379?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/17924841?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: June 2010
Published: October 20, 2014