Full name: ataxin 3

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: AT3; ATX3; JOS; MJD; MJD1; SCA3

Summary: 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. [provided by RefSeq, Jul 2016]

Expression: Ubiquitous expression in skin (RPKM 4.6), testis (RPKM 3.0) and 25 other tissues

Gene size: 48031bp

Exon count: 13