PLCH1 Chromosome 3

Phospholipase C eta 1

2 variants 2 Health Risk

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What This Gene Does

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) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009]

Gene Info

Gene Group

"Phospholipases|C2 domain containing phospholipases|EF-hand domain containing"

Locus Type

gene with protein product

Location

3q25.31

Ensembl

ENSG00000114805

Associated Conditions (1)

Holoprosencephaly 14

Key Variants