Phospholipase C beta 3/PLCB3

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).

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.

• Cytoplasm
• Membrane
• Nucleus
• And particulate fractions.

Phosphoinositide phospholipase C-beta-3, Phospholipase C-beta-3, PLC-beta-3, PLCB3

• entrezGene:23236
• entrezGene:5331
• omim:607120
• omim:600230
• swissprot:Q01970
• swissprot:Q9NQ66

Proteins

Immunology & Infectious Disease

138799Da