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