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Reviewed April 2015
What is the official name of the APTX gene?
The official name of this gene is “aprataxin.”
APTX is the gene's official symbol. The APTX 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 APTX gene?
The APTX gene provides instructions for making a protein called aprataxin that is involved the repair of damaged DNA or RNA, the chemical cousin of DNA. Aprataxin is located in the nucleus of cells and is produced in various tissues, including the brain, spinal cord, and muscles. Different regions of the aprataxin protein aid in its DNA or RNA repair function by allowing the protein to interact with other DNA repair proteins and to attach (bind) to DNA or RNA molecules. At the site of damage, aprataxin modifies the broken ends of the DNA or RNA strands so they can be joined back together.
How are changes in the APTX gene related to health conditions?
Where is the APTX gene located?
Cytogenetic Location: 9p13.3
Molecular Location on chromosome 9: base pairs 32,972,605 to 33,025,137
The APTX gene is located on the short (p) arm of chromosome 9 at position 13.3.
More precisely, the APTX gene is located from base pair 32,972,605 to base pair 33,025,137 on chromosome 9.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about APTX?
You and your healthcare professional may find the following resources about APTX 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 APTX 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 APTX?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 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.