{"symbol":"ATXN3","synonyms":["ATX3","JOS","SCA3","MJD1","MJD"],"name":"ataxin 3","description":"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]","ncbiEntrezGeneId":4287,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/4287","proteins":[{"symbol":"ATX3_HUMAN","href":"/api/1.0/protein/ATX3_HUMAN"}],"hgncRootFamilies":[{"name":"Ataxins (ATXN)","href":"/api/1.0/gene_family/Ataxins+%28ATXN%29"}]}