Aliases for NOTCH3 Gene
External Ids for NOTCH3 Gene
Previous HGNC Symbols for NOTCH3 Gene
Previous GeneCards Identifiers for NOTCH3 Gene
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]
GeneCards Summary for NOTCH3 Gene
NOTCH3 (Notch Receptor 3) is a Protein Coding gene. Diseases associated with NOTCH3 include Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 and Myofibromatosis, Infantile, 2. Among its related pathways are ERK Signaling and Presenilin-Mediated Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and enzyme binding. An important paralog of this gene is NOTCH1.
UniProtKB/Swiss-Prot Summary for NOTCH3 Gene
Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination (PubMed:15350543). Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity).