background:
Enzymes of the phospholipase C family catalyze the hydrolysis of phospholipids to yield diacylglycerols and water soluble phosphorylated derivatives of the lipid head groups. A number of these enzymes have specificity for phosphoinositides. Of the phosphoinositide specific phospholipase C enzymes, C beta is regulated by heterotrimeric G protein coupled receptors, while the closely related C gamma 1 and C gamma 2 enzymes are controlled by receptor tyrosine kinases. The C gamma 1 and C gamma 2 enzymes are composed of phospholipase domains that flank regions of homology to noncatalytic domains of the SRC oncogene product, SH2 and SH3.
Function:
The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. It is a crucial enzyme in transmembrane signaling.
Subunit:
Interacts (via SH2 domain) with CSF1R (tyrosine phosphorylated).
Post-translational modifications:
Phosphorylated on tyrosine residues by CSF1R. Phosphorylated on tyrosine residues by BTK and SYK; upon ligand-induced activation of a variety of growth factor receptors and immune system receptors. Phosphorylation leads to increased phospholipase activity.
DISEASE:
Defects in PLCG2 are the cause of familial cold autoinflammatory syndrome type 3 (FCAS3) [MIM:614468]. An autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritis in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders.
Similarity:
Contains 1 C2 domain.
Contains 1 PH domain.
Contains 1 PI-PLC X-box domain.
Contains 1 PI-PLC Y-box domain.
Contains 2 SH2 domains.
Contains 1 SH3 domain.
Database links:
Entrez Gene: 5336 Human
Entrez Gene: 234779 Mouse
Entrez Gene: 29337 Rat
Omim: 600220 Human
SwissProt: P16885 Human
SwissProt: Q8CIH5 Mouse
SwissProt: P24135 Rat
Unigene: 413111 Human
Unigene: 192699 Mouse
Unigene: 9751 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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