inositol 1,4,5-trisphosphate receptor type 1
Alias
ACV | CLA4 | INSP3R1 | IP3R | IP3R1 | PPP1R94 | SCA15 | SCA16 | SCA29
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].