| Primary Identifier | IPR028381 | Type | Family |
| Short Name | PLC-gamma2 |
| description | Phospholipase C gamma (PLCg), also known as 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma, is a member of the family of phosphoinositide specific PLCs that convert phosphatidylinositol 4,5-bisphosphate into second messengers 1,2-diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3), thereby initiating and propagating numerous cellular signaling events [].There are two forms of phospholipase C-gamma, PLCg1 and PLCg2. PLCg1 is widely distributed but the expression of PLCg2 is primarily limited to cells of haematopoietic lineage []. PLCg1 is critical in many cells, and in haematopoietic systems it is required for T cell and NK cell function, whereas PLCg2 is important in mast cells, NK cells, B cells, and platelets.This entry represents PLCg2. Mutations in PLCg2 gene cause familial cold autoinflammatory syndrome 3 (FCAS3), whcih is an autosomal dominant immune disorder charactersed by the development of cutaneous urticaria, erythema, and pruritis in response to cold exposure []. Mutations in PLCg2 gene also cause autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID), which is an autosomal dominant systemic disorder characterised by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues []. |
