Gene: ITPR1

Alternate names for this Gene: ACV|CLA4|INSP3R1|IP3R|IP3R1|PPP1R94|SCA15|SCA16|SCA29

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.

Gene is located in Chromosome: 3

Location in Chromosome : 3p26.1

Description of this Gene: inositol 1,4,5-trisphosphate receptor type 1

Type of Gene: protein-coding

Gene: LOC105376933

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs4685771 in ITPR1;LOC105376933 gene and Calcium measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.