Literature associating WDR43 and Treacher Collins syndrome
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 ...