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


Reviewed June 2014

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 called 3-methylglutaconyl-CoA hydratase. This enzyme is found in cell structures called mitochondria, which convert energy from food into a form that cells can use. Within mitochondria, this enzyme plays an important role in breaking down proteins into smaller molecules that cells can use to produce energy. Specifically, 3-methylglutaconyl-CoA hydratase is responsible for the fifth step in breaking down the protein building block (amino acid) leucine. The enzyme converts a molecule called 3-methylglutaconyl-CoA into another molecule called 3-hydroxy-3-methylglutaryl-CoA.

3-methylglutaconyl-CoA hydratase also has the ability to attach (bind) to RNA, a chemical cousin of DNA. Researchers are working to determine the purpose of this RNA-binding ability.

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

3-methylglutaconyl-CoA hydratase deficiency - caused by mutations in the AUH gene

At least 11 mutations in the AUH gene have been found to cause 3-methylglutaconyl-CoA hydratase deficiency. This condition causes neurological problems such as movement disorders and problems with thinking ability (cognition). The mutations that cause this condition lead to an absence of 3-methylglutaconyl-CoA hydratase enzyme activity. Without any functional 3-methylglutaconyl-CoA hydratase, the breakdown of leucine is incomplete. As a result, 3-methylglutaconyl-CoA is diverted into an alternative pathway and broken down into multiple acids: 3-methylglutaconic acid, 3-methylglutaric acid, and 3-hydroxyisovaleric acid. These acids accumulate in the body's fluids, causing elevated levels of acid in the blood (metabolic acidosis) and release of large amounts of these acids in urine (aciduria). Researchers speculate that an accumulation of these acids in the fluid that surrounds and protects the brain and spinal cord (the cerebrospinal fluid or CSF) can damage these structures and contribute to the neurological features of 3-methylglutaconyl-CoA hydratase deficiency.

Where is the AUH gene located?

Cytogenetic Location: 9q22.31

Molecular Location on chromosome 9: base pairs 91,213,815 to 91,361,939

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

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 91,213,815 to base pair 91,361,939 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?

  • 3-methylglutaconyl-CoA hydratase
  • 3-methylglutaconyl Coenzyme A hydratase
  • 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
  • methylglutaconyl-CoA hydratase

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

What glossary definitions help with understanding AUH?

acidosis ; acids ; aciduria ; amino acid ; breakdown ; cell ; CoA ; coenzyme A ; cognition ; deficiency ; DNA ; enzyme ; gene ; leucine ; mitochondria ; molecule ; neurological ; 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. (
  • Kurimoto K, Fukai S, Nureki O, Muto Y, Yokoyama S. Crystal structure of human AUH protein, a single-stranded RNA binding homolog of enoyl-CoA hydratase. Structure. 2001 Dec;9(12):1253-63. (
  • 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 (
  • Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E. The 3-methylglutaconic acidurias: what's new? J Inherit Metab Dis. 2012 Jan;35(1):13-22. doi: 10.1007/s10545-010-9210-7. Epub 2010 Sep 30. Review. (
  • Wortmann SB, Kremer BH, Graham A, Willemsen MA, Loupatty FJ, Hogg SL, Engelke UF, Kluijtmans LA, Wanders RJ, Illsinger S, Wilcken B, Cruysberg JR, Das AM, Morava E, Wevers RA. 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. Neurology. 2010 Sep 21;75(12):1079-83. doi: 10.1212/WNL.0b013e3181f39a8a. (


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: June 2014
Published: February 1, 2016