1YZB, 2AGA, 2DOS, 2JRI, 2KLZ, 4WTH, 4YS94287110616ENSG00000066427ENSMUSG00000021189P54252Q4VBR4Q9CVD2NM_001164777NM_001164778NM_001164779NM_001164780NM_001164781NM_001164782NM_004993NM_030660NM_001167914NM_029705NP_001158250NP_001158251NP_001158252NP_001158253NP_001158254NP_004984NP_109376NP_001161386NP_083981Ataxin-3 is a protein that in humans is encoded by the ATXN3 gene.

[5][6] Machado–Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder.

The protein encoded by the ATXN3 gene contains CAG 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 an inverse correlation between the age of onset and CAG repeat numbers.

Alternatively spliced transcript variants encoding different isoforms have been described for this gene.