Anti-SCA2 / ATXN2 / Ataxin-2

0.5mg/ml if reconstituted with 0.2ml sterile DI water. Ataxin-2, the protein encoded by the ATXN2 gene, contains a polyglutamine tract, long expansions (greater than 33 repeats) of which result in spinocerebellar ataxia-2 (SCA2), an autosomal dominant form of olivopontocerebellar atrophy. The gene for spinocerebellar ataxia type 2 (SCA2) has been mapped to 12q24.1. Ataxin-2 associates with L- and T-plastin and that overexpression of ataxin-2 leads to accumulation of T-plastin in mammalian cells. Protein function: Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane. [The UniProt Consortium]