99128-1
PLCG2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Descriptions
LP429702-6 PLCG2 gene
Patients with chronic lymphocytic leukemia (CLL) with disease progression treated with ibrutinib has been attributed to histologic transformation or acquired mutations in BTK and PLCG2 genes. PMID: 28049639
Source: PubMed Central
LP429702-6 PLCG2 gene
The PLCG2 (phospholipase C gamma 2) gene [HGNC Gene ID: 9066] is located on chromosome 16 at position q23.3. The protein encoded by this 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 transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014][NCBI Gene ID: 5336]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- PLCG2 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- PLCG2 gene Mut Anl Bld/T
- Display Name
- PLCG2 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- PLCG2 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.72
- Last Updated
- Version 2.72
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen PLCG2 Analisis de mutaciones: |
fr-FR | French (France) | PLCG2 gène mutation cible trouvée: |
it-IT | Italian (Italy) | PLCG2, gene analisi di mutazione mirata: Synonyms: Gene PLCG2 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | PLCG2-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted |
zh-CN | Chinese (China) | PLCG2 基因 突变分析: Synonyms: 全血或组织; |
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