Entrez gene ID | | 4854 |
Official gene symbol | | NOTCH3 |
Full name | | Notch homolog 3 (Drosophila) |
Aliases | | ,CADASIL,CASIL, |
Gene summary | | 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] |
Location | | Chromosome: 19 Locus: 19p13.2-p13.1 |
Gene position | | 15311792 - 15270444 Map Viewer |
Gene orientation | | minus |
Gene size | | 41349 bp |
Gene sequence |
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OMIM ID | | 600276 |
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