ATXN3 was known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers.
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Protein Aliases: ataxin 3 variant an; ataxin 3 variant ao; ataxin 3 variant at; ataxin 3 variant e; ataxin 3 variant h; ataxin 3 variant m; ataxin 3 variant r; ataxin 3 variant ref; ataxin 3 variant y; ataxin 3); Ataxin-3; ATX3; autosomal dominant; JOS; josephin; Machado-Joseph disease (spinocerebellar ataxia 3; Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3); Machado-Joseph disease protein 1; MJD; MJD1; olivopontocerebellar ataxia 3; SCA3; spin; Spinocerebellar ataxia type 3 protein
Gene Aliases: AT3; ATX3; ATXN3; JOS; MJD; MJD1; SCA3
UniProt ID: (Human) P54252
Entrez Gene ID: (Human) 4287
Molecular Function: transcription factor