{"symbol":"ITPR1","synonyms":["CLA4","SCA16","INSP3R1","PPP1R94","ACV","IP3R1","SCA15","SCA29","IP3R"],"name":"inositol 1,4,5-trisphosphate receptor, type 1","description":"This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]","ncbiEntrezGeneId":3708,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/3708","proteins":[{"symbol":"ITPR1_HUMAN","href":"/api/1.0/protein/ITPR1_HUMAN"}],"hgncRootFamilies":[{"name":"Protein phosphatase 1 regulatory subunits (PPP1R)","href":"/api/1.0/gene_family/Protein+phosphatase+1+regulatory+subunits+%28PPP1R%29"},{"name":"Ion channels","href":"/api/1.0/gene_family/Ion+channels"}]}