Ataxin-8 (ATXN8)

Ataxin-8 is a protein encoded by the ATXN8 gene in humans. It is associated with spinocerebellar ataxia type 8 (SCA8), a neurodegenerative disorder. SCA8 is caused by a CTG/CAG trinucleotide repeat expansion on chromosome 13q21, with two genes spanning the repeat and expressed in opposite directions: ATXN8 (encoding a nearly pure polyglutamine protein in the CAG direction) and ATXN8OS (a noncoding transcript in the other direction). The pathogenic protein can form nuclear inclusions and is believed to contribute to neurodegeneration[1][5]. There is no evidence that Ataxin-8 directly constitutes a drug target (e.g., receptor, enzyme, transporter) or that drugs directly interact with it for therapeutic purposes, although variation in the ATXN8 gene can play a disease role in spinocerebellar ataxia and potentially other neurological disorders[1][3][4].

Other names

Ataxin 8ATXN8Protein 1C2