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Reviewed February 2011
What is the official name of the ATXN3 gene?
The official name of this gene is “ataxin 3.”
ATXN3 is the gene's official symbol. The ATXN3 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the ATXN3 gene?
The ATXN3 gene provides instructions for making an enzyme called ataxin-3, which is found in cells throughout the body. Ataxin-3 is involved in a mechanism called the ubiquitin-proteasome system that destroys and gets rid of excess or damaged proteins. The molecule ubiquitin attaches (binds) to unneeded proteins and tags them to be broken down (degraded) within cells. Ataxin-3 removes (cleaves) the ubiquitin from these unwanted proteins just before they are degraded so that the ubiquitin can be used again. Due to its role in cleaving ubiquitin from proteins, ataxin-3 is known as a deubiquitinating enzyme.
Researchers believe that ataxin-3 also may be involved in regulating the first stage of protein production (transcription).
How are changes in the ATXN3 gene related to health conditions?
Where is the ATXN3 gene located?
Cytogenetic Location: 14q21
Molecular Location on chromosome 14: base pairs 92,058,552 to 92,106,621
The ATXN3 gene is located on the long (q) arm of chromosome 14 at position 21.
More precisely, the ATXN3 gene is located from base pair 92,058,552 to base pair 92,106,621 on chromosome 14.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ATXN3?
You and your healthcare professional may find the following resources about ATXN3 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 ATXN3 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 ATXN3?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (5 links)
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.