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

External Links

NCBI Gene	UniProtKB
HGNC	OMIM

IthaScore

Sequence Viewer

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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 PubMed
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 PubMed

Created on 2019-11-26 12:13:03, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2019-11-26 12:13:03	The IthaGenes Curation Team	Created

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