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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed November 2007

What is the official name of the AUH gene?

The official name of this gene is “AU RNA binding protein/enoyl-CoA hydratase.”

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

What is the normal function of the AUH gene?

The AUH gene provides instructions for producing an enzyme that is found in the energy-producing centers in cells (mitochondria). This enzyme, called 3-methylglutaconyl-CoA hydratase, plays an important role in breaking down proteins from the diet. Specifically, 3-methylglutaconyl-CoA hydratase is needed to process the amino acid leucine, a building block of many proteins. This enzyme also has the ability to bind to RNA, a molecule in cells that is related to DNA. Researchers, however, do not understand the significance of this RNA-binding ability.

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

3-methylglutaconic aciduria - caused by mutations in the AUH gene

A small number of mutations in the AUH gene have been found to cause 3-methylglutaconic aciduria type I. These mutations are thought to prevent any functional 3-methylglutaconyl-CoA hydratase from being made. The absence of this enzyme causes an incomplete breakdown of leucine, leading to a buildup of 3-methylglutaconic acid, a byproduct of leucine breakdown. Researchers believe that in addition to AUH mutations, other environmental or genetic factors are involved in causing this disorder.

Where is the AUH gene located?

Cytogenetic Location: 9q22.31

Molecular Location on chromosome 9: base pairs 91,213,814 to 91,361,932

The AUH gene is located on the long (q) arm of chromosome 9 at position 22.31.

The AUH gene is located on the long (q) arm of chromosome 9 at position 22.31.

More precisely, the AUH gene is located from base pair 91,213,814 to base pair 91,361,932 on chromosome 9.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about AUH?

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

  • AU RNA binding protein/enoyl-Coenzyme A hydratase
  • AU RNA-binding protein/enoyl-Coenzyme A hydratase
  • AU-specific RNA-binding protein
  • enoyl-Coenzyme A hydratase
  • 3-methylglutaconyl-CoA hydratase
  • 3-methylglutaconyl Coenzyme A hydratase
  • methylglutaconyl-CoA hydratase

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding AUH?

aciduria ; amino acid ; CoA ; coenzyme A ; DNA ; enzyme ; gene ; leucine ; mitochondria ; molecule ; protein ; RNA

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (


  • IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ. 3-Methylglutaconic aciduria type I is caused by mutations in AUH. Am J Hum Genet. 2002 Dec;71(6):1463-6. Epub 2002 Nov 14. Erratum in: Am J Hum Genet. 2003 Sep;73(3):709. (
  • Ly TB, Peters V, Gibson KM, Liesert M, Buckel W, Wilcken B, Carpenter K, Ensenauer R, Hoffmann GF, Mack M, Zschocke J. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat. 2003 Apr;21(4):401-7. (
  • NCBI Gene (


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? ( in the Handbook.

Reviewed: November 2007
Published: July 7, 2014