Disease-gene associations mined from literature

Literature associating NOTCH3 and cerebral degeneration

NOTCH3 [ENSP00000263388]

Neurogenic locus notch homolog protein 3; Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. 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).

Synonyms:  NOTCH3,  NOTCH3p,  hNOTCH3,  M0R3C9,  NOTCH3-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM