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Gene : NOTCH3 Homo sapiens

Name  ? notch receptor 3 Cytological Location  19p13.12
Brief Description  notch 3
description  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]
  • synonyms:
  • CASIL,
  • NM_000435,
  • LMNS,
  • CADASIL1,
  • CADASIL,
  • Notch (Drosophila) homolog 3,
  • CADASIL,
  • OTTHUMG00000183217,
  • HGNC:7883,
  • U97669,
  • notch 3,
  • IMF2,
  • NOTCH3,
  • CASIL,
  • Notch homolog 3 (Drosophila),
  • uc002nan.4
  • identifiers:
  • 4854,
  • ENSG00000074181,
  • NOTCH3

Genome feature

Region: gene ? Length: 41349  
Location: 19:15159633-15200981 reverse strand Cyto location: 19p13.12


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Disease

3 Diseases

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Other

0 SN Ps

5 Cross References

19 Data Sets

10 Homologues

0 Located Features

90 Rna Seq Results