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.
Immunogen Information
Immunogen
A synthetic peptide of human IP3R
Gene ID
3708
Swissprot
Q14643
Synonyms
ITPR1ACVCLA4INSP3R1IP3RIP3R1PPP1R94SCA15SCA16SCA29inositol 145-trisphosphate receptor type 1