PLCB3 Chromosome 11

Phospholipase C beta 3

1 variant 1 Health Risk

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What This Gene Does

This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Gene Info

Gene Group

"Phospholipases|C2 domain containing phospholipases"

Locus Type

gene with protein product

Location

11q13.1

Ensembl

ENSG00000149782

Associated Conditions (1)

Spondylometaphyseal dysplasia with corneal dystrophy

Key Variants

RS760695903

Likely pathogenic

Spondylometaphyseal dysplasia with corneal dystrophy, Spondylometaphyseal dysplasia with corneal dystrophy

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS760695903	Health Risk	Likely pathogenic	Spondylometaphyseal dysplasia with corneal dystrophy, Spondylometaphyseal dysplasia with corneal dystrophy