1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Gamma-2 (PLCG2) Reagents

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

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.

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

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

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.