Product details
Background:
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],
