Recombinant Human 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 (PLCG2), Truncated

Uniprot Id

P16885

Target Species

Human

Target Name

PLCG2

Target Full Name

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2

Target 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.

Target Involvement

Familial cold autoinflammatory syndrome 3 (FCAS3); Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID)

Target Synonyms

1 phosphatidylinositol 4 5 bisphosphate phosphodiesterase gamma 2; 1-phosphatidylinositol-4; 5-bisphosphate phosphodiesterase gamma-2; EC 3.1.4.11; Phosphoinositide phospholipase C; Phosphoinositide phospholipase C-gamma-2; Phospholipase C gamma 2; Phospholipase C, gamma 2 (phosphatidylinositol specific); Phospholipase C-gamma-2; Phospholipase C-IV; PLC 2; PLC gamma 2; PLC IV; PLC-gamma-2; PLC-IV; Plcg2; PLCG2_HUMAN

Target Background

The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4, 5-bisphosphate to 1D-myo-inositol 1, 4, 5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3.