ATXN2

• OMIM: 601517
• UniProt: Q99700

Ataxin 2 ( ATX2 ) is a protein that occurs in vertebrates; its exact biological function is unclear. In humans, there are four isoforms which are localized in the cytoplasm of the brain, heart, liver, skeletal muscle, pancreas and placenta. Mutations in the gene ATXN2 can trigger neurodegenerative genetic disorder spinocerebellar ataxia type 2 ( SCA2 ) and amyotrophic lateral sclerosis type 13.

The biological role of ataxin 2 is not yet known in detail, but researchers suspect that ataxin 2 plays a role in RNA processing and in endocytosis. Furthermore, it is assumed that ataxin 2 related cellular processes play a role such as huntingtin protein which triggers in its mutated form of Huntington's disease.