Literature associating TCOF1 and acrofacial dysostosis Cincinnati type
TCOF1 [ENSP00000367028]
Treacle protein; 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, A0A2R8Y4M7, A0A2R8Y857 ...