靶标：
ATXN3
产品别名：
AT3； ATX3； JOS； MJD； MJD1； SCA3； ATXN3； ataxin 3； ataxin 3； ataxin-3； Machado-Joseph disease protein 1； josephin； olivopontocerebellar ataxia 3； spinocerebellar ataxia type 3 protein； 脊髓小脑性共济失调蛋白3；
背景信息：
ataxin 3(ATXN3) Homo sapiens 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],
