DISEASES

Disease-gene associations mined from literature

Literature associating KBTBD8 and Treacher Collins syndrome

KBTBD8 [ENSP00000401878]

Kelch repeat and BTB domain-containing protein 8; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of neural crest specification. The BCR(KBTBD8) complex acts by mediating monoubiquitination of NOLC1 and TCOF1: monoubiquitination promotes the formation of a NOLC1-TCOF1 complex that 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; BTB domain containing

Synonyms:  KBTBD8,  KBTBD8p,  hKBTBD8,  B4DTW6,  C9J331 ...

Linkouts:  STRING  Pharos  UniProt