背景
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.
