PLCB3 phospho S537
Function
Catalyzes the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) (PubMed:20966218, PubMed:29122926, PubMed:37991948, PubMed:9188725). Key transducer of G protein-coupled receptor signaling: activated by G(q)/G(11) G alpha proteins downstream of G protein-coupled receptors activation (PubMed:20966218, PubMed:37991948). In neutrophils, participates in a phospholipase C-activating N-formyl peptide-activated GPCR (G protein-coupled receptor) signaling pathway by promoting RASGRP4 activation by DAG, to promote neutrophil functional responses (By similarity).
Involvement in disease
Spondylometaphyseal dysplasia with corneal dystrophy
SMDCD
An autosomal recessive disorder characterized by postnatal growth deficiency, profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding, and intellectual disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Cytoplasm
- Membrane
- Nucleus
- And particulate fractions.
Alternative names
Phosphoinositide phospholipase C-beta-3, Phospholipase C-beta-3, PLC-beta-3, PLCB3