DISEASES

Disease-gene associations mined from literature

Literature associating RBPJ and CADASIL

RBPJ [ENSP00000345206]

Recombination signal binding protein for immunoglobulin kappa J region; Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes. Probably represses or activates transcription via the recruitment of chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins, respectively. Specifically binds to the immunoglobulin kappa-type J segment recombination signal sequence. Binds specifically to methylated DNA. Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen); Belongs to the Su(H) family.

Synonyms:  RBPJ,  A0A024R9Q8,  D6R927,  D6R946,  D6R9K5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM