Reviewed November 2007
What is the official name of the AUH gene?
The official name of this gene is “AU RNA binding protein/enoyl-Coenzyme A 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?
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3-methylglutaconic aciduria - caused by mutations in the AUH gene
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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 93,015,925 to 93,163,995
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 93,015,925 to base pair 93,163,995 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.
- Gene Tests
- DNA tests ordered by healthcare professionals
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature
- OMIM - Genetic disorder catalog
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What other names do people use for the AUH gene or gene products?
- AUMH_HUMAN
- AU RNA-binding protein/enoyl-Coenzyme A hydratase
- AU RNA-binding protein/enoyl-Coenzyme A hydratase precursor
- Enoyl-Coenzyme A Hydratase
- 3-hydroxy-3-methylglutaryl-CoA hydro-lyase
- 3-methylglutaconyl-CoA hydratase
- 3-Methylglutaconyl coenzyme A hydratase
- Methylglutaconyl-CoA hydratase
- MGA Type I
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding AUH?
acids ;
aciduria ;
amino acid ;
cell ;
CoA ;
coenzyme A ;
DNA ;
enzyme ;
gene ;
leucine ;
mitochondria ;
molecule ;
mutation ;
protein ;
RNA
You may find definitions for these and many other terms in the Genetics Home Reference
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? in the Handbook.
