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.
Inositol 1,4,5-Trisphosphate Receptor Type 1; ACV; CLA4; INSP3R1; IP3R; IP3R1; PPP1R94; SCA15; SCA16; SCA29