Gene Symbol | ITPR1 |
Entrez Gene ID | 3708 |
Full Name | inositol 1,4,5-trisphosphate receptor type 1 |
Synonyms | ACV,CLA4,INSP3R1,IP3R,IP3R1,PPP1R94,SCA15,SCA16,SCA29 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Spinocerebellar ataxia 15, 606658 (3); Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3); Gillespie syndrome, 206700 (3) |