TCOF1 Polyclonal Antibody

This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF) . Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene.

Mandibulofacial dysostosis, MFD1, Nucleolar trafficking phosphoprotein, TCOF 1, TCOF, TCOF1, TCS, TCS1, Treacher Collins Franceschetti syndrome 1, Treacher Collins syndrome, Treacher Collins syndrome protein, Treacle, Treacle protein