DISEASES

Disease-gene associations mined from literature

Literature associating WDR43 and orofacial cleft 15

WDR43 [ENSP00000384302]

WD repeat-containing protein 43; Ribosome biogenesis factor that coordinates hyperactive transcription and ribogenesis . Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I . Essential for stem cell pluripotency and embryonic development. In the nucleoplasm, recruited by promoter-associated/nascent transcripts and transcription to active promoters where it facilitates releases of elongation factor P-TEFb and paused RNA polymerase II to allow transcription elongation and maintain high-level expression of its targets genes (By similarity); Belongs to the UTP5 family.

Synonyms:  WDR43,  WDR43p,  hWDR43,  C9IZK7,  C9JEE7 ...

Linkouts:  STRING  Pharos  UniProt