Aliases for KBTBD8 Gene
External Ids for KBTBD8 Gene
Previous GeneCards Identifiers for KBTBD8 Gene
GeneCards Summary for KBTBD8 Gene
KBTBD8 (Kelch Repeat And BTB Domain Containing 8) is a Protein Coding gene. Diseases associated with KBTBD8 include Treacher Collins Syndrome 1. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is KBTBD2.
UniProtKB/Swiss-Prot for KBTBD8 Gene
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of neural crest specification (PubMed:26399832). 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 (PubMed:26399832).