Entrez gene ID | | 4287 |
Official gene symbol | | ATXN3 |
Full name | | ataxin 3 |
Aliases | | ,AT3,ATX3,JOS,MJD,MJD1,SCA3, |
Gene 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 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. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq] |
Location | | Chromosome: 14 Locus: 14q24.3-q32.2 |
Gene position | | 92572965 - 92524896 Map Viewer |
Gene orientation | | minus |
Gene size | | 48070 bp |
Gene sequence |
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OMIM ID | | 607047 |
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