Immunoprecipitation of TCOF1 transfected lysate using anti-TCOF1 MaxPab rabbit polyclonal antibody and Protein A Magnetic Bead (U0007), and immunoblotted with TCOF1 MaxPab mouse polyclonal antibody (B01) (H00006949-B01).
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. [provided by RefSeq