Entrez gene ID | | 3708 |
Official gene symbol | | ITPR1 |
Full name | | inositol 1,4,5-triphosphate receptor, type 1 |
Aliases | | ,DKFZp313E1334,DKFZp313N1434,INSP3R1,IP3R,IP3R1,SCA15,SCA16, |
Gene 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] |
Location | | Chromosome: 3 Locus: 3p26-p25 |
Gene position | | 4535032 - 4889524 Map Viewer |
Gene orientation | | plus |
Gene size | | 354493 bp |
Gene sequence |
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OMIM ID | | 147265 |
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