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Genetics Home Reference: your guide to understanding genetic conditions
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ACADSB

Reviewed April 2007

What is the official name of the ACADSB gene?

The official name of this gene is “acyl-CoA dehydrogenase, short/branched chain.”

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

What is the normal function of the ACADSB gene?

The ACADSB gene provides instructions for making an enzyme called 2-methylbutyryl-CoA dehydrogenase that plays an important role in processing proteins. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for growth and development. In cells throughout the body, 2-methylbutyryl-CoA dehydrogenase is found within specialized structures called mitochondria. Mitochondria convert energy from food to a form that cells can use.

The enzyme 2-methylbutyryl-CoA dehydrogenase helps to process a particular amino acid called isoleucine. Specifically, this enzyme helps with the third step in the breakdown of isoleucine. This step is a chemical reaction that converts a molecule called 2-methylbutyryl-CoA to another molecule, tiglyl-CoA. Additional chemical reactions convert tiglyl-CoA into molecules that are used for energy.

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

2-methylbutyryl-CoA dehydrogenase deficiency - caused by mutations in the ACADSB gene

Researchers have identified several mutations in the ACADSB gene that cause 2-methylbutyryl-CoA dehydrogenase deficiency. Many of these mutations replace one of the amino acids in the 2-methylbutyryl-CoA dehydrogenase enzyme with an incorrect amino acid. Other mutations lead to a smaller version of this enzyme that is missing several amino acids. As a result of these mutations, 2-methylbutyryl-CoA dehydrogenase has little or no activity. With a shortage (deficiency) of this enzyme, the body is unable to break down isoleucine properly. As a result, isoleucine is not converted to energy, which can lead to characteristic features of this disorder, such as lethargy and muscle weakness. Improper processing of isoleucine also allows a substance called 2-methylbutyrylglycine and related compounds to build up to harmful levels, causing serious health problems.

Where is the ACADSB gene located?

Cytogenetic Location: 10q26.13

Molecular Location on chromosome 10: base pairs 123,008,912 to 123,058,289

The ACADSB gene is located on the long (q) arm of chromosome 10 at position 26.13.

The ACADSB gene is located on the long (q) arm of chromosome 10 at position 26.13.

More precisely, the ACADSB gene is located from base pair 123,008,912 to base pair 123,058,289 on chromosome 10.

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 ACADSB?

You and your healthcare professional may find the following resources about ACADSB 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 ACADSB gene or gene products?

  • 2-MEBCAD
  • 2-methyl branched chain acyl-CoA dehydrogenase
  • ACAD7
  • ACDSB_HUMAN
  • SBCAD
  • short/branched chain acyl-CoA dehydrogenase

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 ACADSB?

acids ; amino acid ; breakdown ; CoA ; deficiency ; dehydrogenase ; enzyme ; gene ; isoleucine ; lethargy ; methyl ; mitochondria ; molecule

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, SHORT/BRANCHED CHAIN (http://omim.org/entry/600301)
  • Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F. 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 metabolism. Am J Hum Genet. 2000 Nov;67(5):1095-103. Epub 2000 Sep 29. (http://www.ncbi.nlm.nih.gov/pubmed/11013134?dopt=Abstract)
  • Korman SH. Inborn errors of isoleucine degradation: a review. Mol Genet Metab. 2006 Dec;89(4):289-99. Epub 2006 Sep 6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16950638?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/36)
  • Pasquali M, Monsen G, Richardson L, Alston M, Longo N. Biochemical findings in common inborn errors of metabolism. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):64-76. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16602099?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: April 2007
Published: November 24, 2014