rs377058251
This variant is located in the PLCG2 gene.
▶ClinVar annotation
not provided; Inborn genetic diseases; Familial cold autoinflammatory syndrome 3
View on ClinVar →About PLCG2
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]
View all PLCG2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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