Ataxin-3 (ATXN3) Rabbit mAb

Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. Synonyma: AT3, JOS, MJD, ATX3, MJD1, SCA3, Ataxin-3 (ATXN3)