{"symbol":"ATXN8","synonyms":[],"name":"ataxin 8","description":"Spinocerebellar ataxia-8 (SCA8; {608768}) is a neurodegenerative disorder caused by a CTG/CAG trinucleotide repeat expansion on chromosome 13q21 (see {603680.0001} and {613289.0001}). Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS ({603680}), which, when transcribed, produces a noncoding CUG expansion RNA ({2:Moseley et al., 2006}).[supplied by OMIM, Mar 2010]","ncbiEntrezGeneId":724066,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/724066","proteins":[{"symbol":"ATX8_HUMAN","href":"/api/1.0/protein/ATX8_HUMAN"}],"hgncRootFamilies":[{"name":"Ataxins (ATXN)","href":"/api/1.0/gene_family/Ataxins+%28ATXN%29"}]}