Ataxin-1, also designated spinocerebellar ataxia type 1 protein (Sca-1), is differentially expressed and localizes to both the cytoplasm and the nucleus. Mutations in Ataxin-1 are associated with the onset of the autosomal dominant neurodegenerative disorder spinocerebellar ataxia type 1 (SCA-1), which is characterized by progressive neuronal loss in the cerebellum, muscle wasting and ataxia. In Purkinje cells, where SCA-1 is predominantly observed, Ataxin-1 has been shown to directly associate with the Purkinje-enriched leucine-rich acidic nuclear protein (LANP) and the nuclear matrix-associated protein promyelocytic leukemia protein PML. In SCA-1, Ataxin-1 is mutated to encode a polyglutamine protein that forms nuclear aggregates, which interact significantly more strongly with LANP and contribute to the pathogenesis of SCA-1.
Synonyms: Ataxin 1 phospho S776,p-Ataxin 1 phospho S776, ATX1, ATXN1, SCA1, Ataxin 1, Ataxin-1, Ataxin1, Spinocerebellar ataxia type 1, ATX1_HUMAN.