Disease-gene associations mined from literature

Literature associating BMI1 and cataract 30

BMI1 [ENSP00000365851]

BMI1 proto-oncogene, polycomb ring finger; Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. The complex composed of RNF2, UB2D3 and BMI1 binds nucleosomes, and has activity only with nucleosomal histone H2A. In the PRC1-like complex, regulates the E3 ubiquitin-protein ligase activity of RNF2/RING2.

Synonyms:  BMI1,  BMI1p,  hBMI1,  P35226,  Q5T8Z2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM