This gene encodes the third discovered human homologue ofthe Drosophilia melanogaster type I membrane protein notch. InDrosophilia, notch interaction with its cell-bound ligands (delta,serrate) establishes an intercellular signalling pathway that playsa key role in neural development. Homologues of the notch-ligandshave also been identified in human, but precise interactionsbetween these ligands and the human notch homologues remains to bedetermined. Mutations in NOTCH3 have been identified as theunderlying cause of cerebral autosomal dominant arteriopathy withsubcortical infarcts and leukoencephalopathy (CADASIL). [providedby RefSeq].
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