DISEASES

Disease-gene associations mined from literature

Literature associating NOP56 and Treacher Collins syndrome

NOP56 [ENSP00000370589]

NOP56 ribonucleoprotein; Involved in the early to middle stages of 60S ribosomal subunit biogenesis. Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles. Required for the biogenesis of box C/D snoRNAs such U3, U8 and U14 snoRNAs; Belongs to the NOP5/NOP56 family.

Synonyms:  NOP56,  NOP56p,  hNOP56,  NOP56-001,  NOP56-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM