LP31876-3
NOTCH3 gene
Active
Description
The NOTCH3 gene (notch 3) [HGNC Gene ID:7883] is located on chromosome 19p13.2-p13.1. This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008] [NCBI Gene ID:4854] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- NOTCH3 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2003-08-08
- Construct for LOINC Short Name
- NOTCH3 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | NOTCH3 基因 Synonyms: CADASIL; |
| et-EE | Estonian (Estonia) | NOTCH3 geen |
| es-ES | Spanish (Spain) | Gen NOTCH3 |
| it-IT | Italian (Italy) | NOTCH3, gene Synonyms: Gene NOTCH3 |
| tr-TR | Turkish (Turkey) | NOTCH3 geni |
| ru-RU | Russian (Russian Federation) | NOTCH3 ген |
| nl-NL | Dutch (Netherlands) | NOTCH3-gen Synonyms: NOTCH3 gen |
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