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Overview
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Background
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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