ATXN3, Official Symbol ATXN3provided by HGNC Official Full Name ataxin 3provided by HGNC Primary source HGNC:HGNC:7106 See related Ensembl:ENSG00000066427 MIM:607047; AllianceGenome:HGNC:7106 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AT3; JOS; MJD; ATX3; MJD1; SCA3 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] Expression Ubiquitous expression in skin (RPKM 4.6), testis (RPKM 3.0) and 25 other tissues See more Orthologs mouse all