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Reviewed February 2011
What is the official name of the ATXN2 gene?
The official name of this gene is “ataxin 2.”
ATXN2 is the gene's official symbol. The ATXN2 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 ATXN2 gene?
The ATXN2 gene provides instructions for making a protein called ataxin-2. This protein is found throughout the body, but its function is unknown. Ataxin-2 is found in the fluid inside cells (cytoplasm) and seems to interact with a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved in protein production, processing, and transport. Researchers believe that ataxin-2 may be involved in processing RNA, a chemical cousin of DNA. Ataxin-2 is also thought to play a role in the translation of genetic information to produce proteins.
One region of the ATXN2 gene contains a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated approximately 22 times within the gene.
How are changes in the ATXN2 gene related to health conditions?
Genetics Home Reference provides information about amyotrophic lateral sclerosis, which is also associated with changes in the ATXN2 gene.
Where is the ATXN2 gene located?
Cytogenetic Location: 12q24.1
Molecular Location on chromosome 12: base pairs 111,890,017 to 112,037,479
The ATXN2 gene is located on the long (q) arm of chromosome 12 at position 24.1.
More precisely, the ATXN2 gene is located from base pair 111,890,017 to base pair 112,037,479 on chromosome 12.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ATXN2?
You and your healthcare professional may find the following resources about ATXN2 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 ATXN2 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 ATXN2?
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.