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Reviewed February 2011
What is the official name of the ATXN1 gene?
The official name of this gene is “ataxin 1.”
ATXN1 is the gene's official symbol. The ATXN1 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 ATXN1 gene?
The ATXN1 gene provides instructions for making a protein called ataxin-1. This protein is found throughout the body, but its function is unknown. Within cells, ataxin-1 is located in the nucleus. Researchers believe that ataxin-1 may be involved in regulating various aspects of producing proteins, including the first stage of protein production (transcription) and processing RNA, a chemical cousin of DNA.
One region of the ATXN1 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 4 to 39 times within the gene.
How are changes in the ATXN1 gene related to health conditions?
Where is the ATXN1 gene located?
Cytogenetic Location: 6p23
Molecular Location on chromosome 6: base pairs 16,299,111 to 16,761,489
The ATXN1 gene is located on the short (p) arm of chromosome 6 at position 23.
More precisely, the ATXN1 gene is located from base pair 16,299,111 to base pair 16,761,489 on chromosome 6.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ATXN1?
You and your healthcare professional may find the following resources about ATXN1 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 ATXN1 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 ATXN1?
adenine ; ataxia ; cell ; central nervous system ; cerebellum ; cytosine ; DNA ; gene ; guanine ; mutation ; nervous system ; nucleus ; protein ; Purkinje cells ; RNA ; stage ; transcription ; trinucleotide repeat
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.