DefinitionThis section has been translated automatically.
The PLCG2 gene (PLCG2 stands for phospholipase C gamma 2) is a protein coding gene located at chromosome 16q24.1.
General informationThis section has been translated automatically.
The protein encoded by the PLCG2 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 the transmission of signals from growth factor receptors and immune system receptors across the cell membrane.
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Clinical pictureThis section has been translated automatically.
Mutations in this gene have been reported in
- syndrome with autoinflammation, antibody deficiency, and
as well as
detected.
Note(s)This section has been translated automatically.
Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic molecules. There are four main classes: phospholipase A, phospholipase B, phosphoinositide-specific phospholipase C and phospholipase D.
LiteratureThis section has been translated automatically.
- Gandhi C et al (2009) Familial atypical cold urticaria: description of a new hereditary disease. J Allergy Clin Immun 124: 1245-1250.
- Neves JF et al (2018) Novel PLCG2 mutation in a patient with APLAID and cutis laxa. Front. Immun. 9: 2863
- Ombrello MJ et al (2012) Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. New Eng J Med 366: 330-338.
