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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.
Gene Name: | inositol 1,4,5-trisphosphate receptor, type 1 |
Family/Subfamily: | Ion Channel , Inositol 1,4,5-triphosphate receptor |
Synonyms: | ITPR1, InsP3R-I, IP3R1, InsP3R, InsP3R type I, INSP3R1, IP3R, Opisthotonus, Pcp1, IP3 receptor, IP3 receptor isoform 1, SCA15, Spinocerebellar ataxia 15, Spinocerebellar ataxia 16, I145TR, IP3R 1, KIAA1754, SCA16, Type 1 InsP3 receptor |
Target Sequences: | NM_001099952 NP_002213.5 Q14643 |
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