Rabbit anti-Human TCOF1 Polyclonal Antibody

Uniprot Id

Q13428

Target Species

Human

Target Name

TCOF1

Target Full Name

Treacle protein

Target Function

Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification. Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and 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.

Target Involvement

Treacher Collins syndrome 1 (TCS1)

Target Subcellular Location

Nucleus, nucleolus.

Target Synonyms

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

Target Background

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.