99126-5
NOTCH1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP265712-2 NOTCH1 gene
The NOTCH1 gene (notch 1) [HGNC Gene ID:7881] is located on chromosome 9q34.3. This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] [NCBI Gene ID:4851]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- NOTCH1 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- NOTCH1 Mut Anl Bld/T
- Display Name
- NOTCH1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- NOTCH1 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 NOTCH1 Analisis de mutaciones: |
fr-FR | French (France) | NOTCH1 gène mutation cible trouvée: |
it-IT | Italian (Italy) | NOTCH1, gene analisi di mutazione mirata: Synonyms: Gene NOTCH1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | NOTCH1-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted |
zh-CN | Chinese (China) | NOTCH1 基因 突变分析: Synonyms: 全血或组织; |
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