DISEASES

Disease-gene associations mined from literature

Literature associating BPTF and Dubowitz syndrome

BPTF [ENSP00000307208]

Bromodomain and PHD finger-containing transcription factor; Histone-binding component of NURF (nucleosome-remodeling factor), a complex which catalyzes ATP-dependent nucleosome sliding and facilitates transcription of chromatin. Specifically recognizes H3 tails trimethylated on 'Lys-4' (H3K4me3), which mark transcription start sites of virtually all active genes. May also regulate transcription through direct binding to DNA or transcription factors; Belongs to the PBTF family.

Synonyms:  BPTF,  E7ETD6,  F5GXF5,  Q12830,  Q86TN2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM