{"symbol":"APTX","synonyms":["AOA1","EOAHA","EAOH","AXA1","AOA","FHA-HIT"],"name":"aprataxin","description":"This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]","ncbiEntrezGeneId":54840,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/54840","proteins":[{"symbol":"APTX_HUMAN","href":"/api/1.0/protein/APTX_HUMAN"}],"hgncRootFamilies":[]}