GeneID: 311
Names
| Common Name: | PLCH1 | Type: | Gene |
|---|---|---|---|
| Chromosome: | 3 (NC_000003.12) | Locus: | NM_001130960.2 (PLCH1) |
| HUGO Symbol: | PLCH1 | Full Name: | phospholipase C eta 1 |
| Exons: | 23 | Introns: | 22 |
Description:
PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), a membrane phospholipid, to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG). These second messengers in turn control intracellular levels of free Ca2+ and protein kinase C activity, respectively. Genetic variance in PLCH1 gene associated with episodes of pain in patients with sickle cell disease.
Synonyms: PLCL3 , PLC-L3 , PLC eta 1
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- Hwang JI, Oh YS, Shin KJ, Kim H, Ryu SH, Suh PG, Molecular cloning and characterization of a novel phospholipase C, PLC-eta., Biochem. J., 389(0), 181-6, 2005
- Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013