Ataxin-2

Ataxin-2 is a highly conserved RNA-binding protein encoded by the ATXN2 gene. It plays multiple roles related to RNA metabolism, including mRNA translation, splicing, and stability. It is involved in the formation of stress granules and P-bodies. Expansion of a polyglutamine (polyQ) tract within Ataxin-2 causes Spinocerebellar Ataxia Type 2 (SCA2), and intermediate-size expansions are associated with increased ALS risk. It also negatively regulates endocytic EGFR internalization at the plasma membrane and is essential for synapse-specific long-term plasticity. Variants or dysfunctions have also been linked to primary open-angle glaucoma, Parkinson’s disease, obesity and type I diabetes.