The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. It is a crucial enzyme in transmembrane signaling.
Familial cold autoinflammatory syndrome 3
FCAS3
An autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritis in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B-cells, defective B-cells, increased susceptibility to infection, and increased risk of autoimmune disorders.
None
The disease is caused by variants affecting the gene represented in this entry.
Autoinflammation, antibody deficiency, and immune dysregulation
APLAID
An autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies.
None
The disease is caused by variants affecting the gene represented in this entry.
Phosphorylated on tyrosine residues by CSF1R (By similarity). Phosphorylated on tyrosine residues by BTK and SYK; upon ligand-induced activation of a variety of growth factor receptors and immune system receptors. Phosphorylation leads to increased phospholipase activity.
Phosphoinositide phospholipase C-gamma-2, Phospholipase C-IV, Phospholipase C-gamma-2, PLC-IV, PLC-gamma-2, PLCG2
Proteins
Immunology & Infectious Disease
147870Da
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