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Antibody detects endogenous levels of total TCOF1.
Treacle is a serine/alanine-rich 1,411 amino acid nuclear phosphoprotein that interacts with upstream binding factor (UBF) and affects transcription of the ribosomal DNA gene. Treacle is also involved in early embryonic development, particularly in the craniofacial complex, and may play a role in nucleolarcytoplasmic transport. The Treacle protein contains three domains with unique N- and C-termini and a large central repeat domain. Mutations in TCOF1, the gene that encodes for Treacle, cause Treacher Collins-Franceschetti syndrome (TCS), a disorder characterized by defects in craniofacial development. Symptoms of TCS include conductive hearing loss, hypoplasia of the mandible and maxilla, downward sloping palpebral fissures and cleft palate.
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蛋白别名: nucleolar trafficking phosphoprotein; Treacher Collins Franceschetti syndrome 1, homolog; Treacher Collins syndrome protein; Treacher Collins-Franceschetti syndrome 1; Treacher Collins-Franceschetti syndrome 1 homolog; Treacle protein
基因别名: MFD1; TCOF1; TCS; TCS1; treacle
UniProt ID: (Human) Q13428
Entrez Gene ID: (Human) 6949, (Rat) 291571