Synonyms: AT3,Ataxin 3,ataxin 3 variant h,ataxin 3 variant m,ataxin 3 variant ref,Ataxin-3,ATX3,ATX3,ATXN3,EC 3.4.22.,JOS,Josephin,Machado Joseph disease (spinocerebellar ataxia 3,olivopontocerebellar ataxia 3,autosomal dominant,ataxin 3),Machado Joseph disease,Machado Joseph disease protein 1,Machado-Joseph disease protein 1,Machado-Joseph disease protein 1 homolog,MJD,MJD gene,MJD1,Olivopontocerebellar ataxia 3,OTTHUMP00000221583,OTTHUMP00000221585,OTTHUMP00000221586,OTTHUMP00000221587,OTTHUMP00000231995,OTTHUMP00000231997,Rsca3,SCA3,SCA3 gene,Spinocerebellar ataxia type 3 protein
Background: 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.