Gene: PLCG2
Alternate names for this Gene: APLAID|FCAS3|PLC-IV|PLC-gamma-2
Gene Summary: 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.
Gene is located in Chromosome: 16
Location in Chromosome : 16q23.3
Description of this Gene: phospholipase C gamma 2
Type of Gene: protein-coding