Search for a gene
ITPR1 - inositol 1,4,5-trisphosphate receptor type 1
- Synonym(s) : ACV, Insp3r1, IP3R1, PPP1R94, protein phosphatase 1, regulatory subunit 94
- Previous symbols and names : SCA15, SCA16, SCA29, inositol 1,4,5-trisphosphate receptor, type 1, spinocerebellar ataxia 15, spinocerebellar ataxia 16, spinocerebellar ataxia 29
- Type : gene with protein product
- Chromosomal location : 3p26.1
- OMIM: 147265
- HGNC: 6180
- UniProtKB: Q14643
- Genatlas: ITPR1
- GenCC: ITPR1
- Ensembl: ENSG00000150995
- IUPHAR-DB: 743
- Reactome: Q14643
- LOVD: ITPR1
Diseases list
- Disease-causing germline mutation(s) in Aniridia-cerebellar ataxia-intellectual disability syndrome
ORPHA:1065 
- Disease-causing germline mutation(s) in Spinocerebellar ataxia type 15/16
ORPHA:98769 - Disease-causing germline mutation(s) in Spinocerebellar ataxia type 29
ORPHA:208513
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.