Gene Symbol | ATXN3 |
Entrez Gene ID | 4287 |
Full Name | ataxin 3 |
Synonyms | AT3,ATX3,JOS,MJD,MJD1,SCA3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Machado-Joseph disease, 109150 (3) |