2024年12月25日 · PLCG2 (Phospholipase C Gamma 2) is a Protein Coding gene. Diseases associated with PLCG2 include Autoinflammation, Antibody Deficiency, And Immune Dysregulation and Familial Cold Autoinflammatory Syndrome 3 .

1-Phosphatidylinositol-4,5-bisphosphate phosphodiesterase gamma-2 is an enzyme that in humans is encoded by the PLCG2 gene. [5][6] From OMIM as of March 24, 2020: [7] Enzymes of the phospholipase C family catalyze the hydrolysis of phospholipids to yield diacylglycerols and water-soluble phosphorylated derivatives of the lipid head groups.

Phosphatidylinositol-specific phospholipase Cγ2 (PLCγ2) is a critical signaling molecule activated downstream from a variety of cell surface receptors that contain an intracellular immunoreceptor tyrosine-based activation motif.

The PLCG2 gene provides instructions for making an enzyme called phospholipase C gamma 2 (PLCγ2). This enzyme performs a chemical reaction that enables molecules to relay signals from outside the cell to the inside.

PLCG2-associated antibody deficiency and immune dysregulation (PLAID) and PLAID-like diseases are rare, inherited immune disorders with overlapping features. An allergic response to cold, called cold urticaria, is the most distinct symptom.

PLCG2-associated antibody deficiency and immune dysregulation (PLAID) is an immune system disorder characterized by an allergic reaction to cold temperatures. Explore symptoms, inheritance, genetics of this condition.

See also the paragraph “PLCG2 variants: the Good, the Bad and the Ugly” for a review on the consequences of PLCγ2 loss of function (LOF) in peripheral immune cells. TREM2 and PLCγ2 signalling has been shown to regulate several immune functions in macrophages, promoting both pro- or anti-inflammatory responses, depending on cellular state ...

2024年7月7日 · Phospholipase Cγ2 regulates endocannabinoid and eicosanoid networks in innate immune cells. Jing H, Reed A, Ulanovskaya OA, Grigoleit JS, Herbst DM, Henry CL, Li H, Barbas S, Germain J, Masuda K, Cravatt BFJing H, et al. Proc Natl Acad Sci U S A, 2021 Oct 12. PMID 34607960.

2021年10月6日 · PLCγ2 is a key component of intracellular signal transduction networks and induces Ca 2+ signals downstream of many myeloid cell surface receptors, including TREM2.

PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants. Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency.