DISEASES

Disease-gene associations mined from literature

Literature associating WDR43 and Treacher Collins syndrome

WDR43 [ENSP00000384302]

U3 small nucleolar RNA-associated protein 5 homolog; Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre- ribosomal RNA transcription by RNA polymerase I; Belongs to the UTP5 family.

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

Linkouts:  STRING  Pharos  UniProt