DISEASES

Disease-gene associations mined from literature

Literature associating TCOF1 and coloboma

TCOF1 [ENSP00000367028]

Treacher Collins-Franceschetti syndrome 1; Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification. Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification.

Synonyms:  TCOF1,  TCOF1p,  hTCOF1,  DKFZP434G1035,  DKFZP434G1035-001 ...

Linkouts:  STRING  Pharos  UniProt