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].
