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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 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.
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.
Cytogenetic Location: 9q22.31
Molecular Location on chromosome 9: base pairs 91,213,814 to 91,361,938
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 91,361,938 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.
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 (http://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.