The APTX gene provides instructions for making a protein called aprataxin that is involved in the repair of DNA damage in cells. Aprataxin is located in the nucleus of cells and is produced in various tissues, including the brain, spinal cord, and muscles. Different parts of the aprataxin protein allow the protein to interact with other DNA repair proteins to make repairs. At the site of the damage, aprataxin modifies the broken ends of the DNA strands so they can be joined back together correctly.
Other Names
AOA; AOA1; APTX_HUMAN; ataxia 1, early onset with hypoalbuminemia; AXA1; EAOH; EOAHA; FHA-HIT
Related Genetics Topics
Identifiers
- NCBI Gene: 54840
- OMIM: 606350
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
