LP265712-2
NOTCH1 gene
Active
Description
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
Basic Part Properties
- Part Name
- NOTCH1 gene
- Part Display Name
- NOTCH1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2018-01-05
- Construct for LOINC Short Name
- NOTCH1
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | NOTCH1, gene Synonyms: Gene NOTCH1 |
| es-ES | Spanish (Spain) | Gen NOTCH1 |
| zh-CN | Chinese (China) | NOTCH1 基因 |
| nl-NL | Dutch (Netherlands) | NOTCH1-gen |
| fr-FR | French (France) | NOTCH1 gène |
| pl-PL | Polish (Poland) | NOTCH1 gen Synonyms: Gen NOTCH1 |
| el-GR | Greek (Greece) | Γονίδιο NOTCH1 Synonyms: Γονίδιο NOTCH1 |
LOINC Copyright
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