Notch 3

Neurogenic locus notch homolog protein 3 is a is_associated_with::protein that in humans is encoded by the NOTCH3 is_associated_with::gene.

Function
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.

Pathology
Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (is_associated_with::CADASIL). Mutations in NOTCH3 have also been identified in a Turkish family with Alzheimer's disease. Adult Notch3 knock-out mice show incomplete neuronal maturation in the spinal cord dorsal horn, resulting in permanently increased nociceptive sensitivity. Mutations in is_associated_with::NOTCH3 are associated to lateral meningocele syndrome.