Notch Homolog 3 (NOTCH3)
CADASIL; CASIL
 HGNC 7883
 MGI 99460
 RGD 620761
 UniProt Q9UM47
 USCN L147
Notch Homolog 3 (NOTCH3)
NOTCH3 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).
Organism species: Homo sapiens (Human)
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Organism species: Mus musculus (Mouse)
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Organism species: Rattus norvegicus (Rat)
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