99127-3
BIRC3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP429664-8 BIRC3 gene
The BIRC3 gene [HGNC Gene ID: 591] encodes a member of the IAP family of proteins that inhibit apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. It contains 3 baculovirus IAP repeats and a ring finger domain. Transcript variants encoding the same isoform have been identified. [provided by RefSeq, Aug 2011] [NCBI Gene ID: 330]
BIRC3 is thought to be important in the pathophysiology of chronic lymphocytic leukemia (CLL), based on the observation of loss of function mutations via its role in modulating NF-kb signaling. PMID: 30487125.
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- BIRC3 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- BIRC3 gene Mut Anl Bld/T
- Display Name
- BIRC3 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- BIRC3 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 BIRC3 Analisis de mutaciones: |
fr-FR | French (France) | BIRC3 gène mutation cible trouvée: |
it-IT | Italian (Italy) | BIRC3, gene analisi di mutazione mirata: Synonyms: Gene BIRC3 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | BIRC3-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted |
zh-CN | Chinese (China) | BIRC3 基因 突变分析: Synonyms: 全血或组织; |
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