NOTCH3, Official Symbol NOTCH3provided by HGNC Official Full Name notch receptor 3provided by HGNC Primary source HGNC:HGNC:7883 See related Ensembl:ENSG00000074181 MIM:600276; AllianceGenome:HGNC:7883 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IMF2; LMNS; CASIL; CADASIL; CADASIL1 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, Jul 2008] Expression Broad expression in fat (RPKM 35.4), placenta (RPKM 33.8) and 22 other tissues See more Orthologs mouse all