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