Disease-gene associations mined from literature

Literature associating RBBP5 and Kabuki syndrome

RBBP5 [ENSP00000264515]

Retinoblastoma-binding protein RBQ-3; In embryonic stem (ES) cells, plays a crucial role in the differentiation potential, particularly along the neural lineage, regulating gene induction and H3 'Lys-4' methylation at key developmental loci, including that mediated by retinoic acid (By similarity). As part of the MLL1/MLL complex, involved in mono-, di- and trimethylation at 'Lys-4' of histone H3. Histone H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation; WD repeat domain containing

Synonyms:  RBBP5,  RBBP5p,  hRBBP5,  A0A024R9B5,  Q15291 ...

Linkouts:  STRING  Pharos  UniProt  OMIM