PLCG2

PLCG2

A gene on chromosome 16q24.1 that encodes a phospholipase which mediates production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) and plays a key role in transmembrane signalling.

Molecular pathology
Defects in PLCG2 cause familial cold autoinflammatory syndrome type 3.
References in periodicals archive ?
cDNA of phospholipase C gamma 2 ( PLCG2 ) were screened by means of PCR amplification of overlapping segments and then Sanger sequencing.
No mutations were detected in exon 3 of NLRP12 or exons 1-33 of PLCG2 .
FACU/ PLCG2 associated antibody deficiency and immune dysregulation (PLAID) is currently thought to be caused by deletions in PLCG2 .[5] PLAID is characterized by CU, autoimmunity, recurrent bacterial infection, and skin granuloma formation.
The NLR and PLCG2 genes may be analyzed in mutation detection studies involving patients with FCU.
The new mouse models express variants at genetic loci that have been associated with late-onset AD, but have not yet been proven to be causative: ABCA7, CEACAM1, IL1RAP and PLCG2. These have been created on an APOE?4 and mutant Trem2 genetic background, to increase the chances of demonstrating Alzheimers-like characteristics.
(44.) Sims, R., et al, (2017), "Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease," Nature Genetics, 49, 1373-1384.
Between-placenta variability was higher than within-placenta variability for all genes, except for SYN1, AKT2, and PLCG2 (see Supplemental Material, Table S2).
Similarly, the response variable consisted of eight gene expression values per placenta within the SOS cascade (BDNF, SOS1, SOS2, and SYN1) and six gene expression values per placenta within the PLCG cascade (BDNF, PLCG1, and PLCG2).
We found for the PLCG cascade (BDNF, PLCG1, and PLCG2) that [PM.sub.2.5] exposure during the first month (p = 0.001) and the first trimester (p = 0.009) of pregnancy was associated with significantly lower levels of placental gene expression at birth (Table 3).
In addition, a Sunesis-supported study led by the European Research Initiative on CLL (ERIC) assessed the real-world prevalence of BTK C481 and PLCg2 mutations in CLL patients relapsing under ibrutinib.
This real-world study confirms that there exists a high frequency of mutations within the Brutons tyrosine kinase (BTK) gene at C481, the binding site for ibrutinib, as well as the rarer PLCg2 gene, in CLL patients relapsing under ibrutinib, said Professor Paolo Ghia, President of ERIC and senior author of the abstract.
The ERIC study, titled Half of Chronic Lymphocytic Leukemia Patients Relapsing Under Ibrutinib Carry BTK and PLCG2 Mutations: A European Research Initiative on CLL (ERIC) Real-World Study, was presented by Dr.