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PLCG2 / PLC Gamma 2 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.
Gene Name: | phospholipase C, gamma 2 (phosphatidylinositol-specific) |
Family/Subfamily: | Phospholipase , not assigned-Phospholipase |
Synonyms: | PLCG2, FCAS3, Phospholipase C-gamma-2, PLCG 2, PLC-IV, APLAID, Phospholipase C-IV, PLC-gamma-2 |
Target Sequences: | NM_002661 NP_002652.2 P16885 |
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