Description 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. [provided by RefSeq, Mar 2014]   Source
Gene Symbol PLCG2 Gene
Protein Name 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 Uniprot
Synonyms FCAS3; APLAID and 7 more synonyms used to describe this biomarker that Amplion uses in its algorithms.

Associated Biomarker Indications

Biomarkers sample