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.
Other Names
ataxin-2; ATX2; ATX2_HUMAN; SCA2
Related Genetics Topics
- Amyotrophic lateral sclerosis — MedlinePlus Genetics
- Spinocerebellar ataxia type 2 — MedlinePlus Genetics
Identifiers
- NCBI Gene: 6311
- OMIM: 601517
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
