Gene:
ataxin 3
Gene ID:
190414
Symbol:
ATXN3
Species:
1000
Description:
Machado-Joseph disease is an autosomal dominant neurologic disorder, and is now known to be the same as previously described spinocerebellar ataxia-3. 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 the cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Transcript variants encoding different isoforms (not involving the (CAG)n repeats) and utilizing alternative polyA_sites have been described for this gene.