TCOF1

TCOF1 is a gene that provides instructions for making a protein called treacle. This protein is essential for the proper development of the skull, face, and bones of the inner ear. It is thought to play a role in cell migration and differentiation during embryonic development. Mutations in the TCOF1 gene are the most common cause of Treacher Collins syndrome, a genetic disorder characterized by craniofacial abnormalities. These abnormalities can include underdevelopment of the jaw and cheekbones, a cleft palate, and abnormalities of the outer ear. The severity of Treacher Collins syndrome can vary widely, even among individuals with the same mutation. In some cases, the effects are mild and may not be apparent, while in others, they can be severe and life-threatening. TCOF1 mutations can also be associated with other conditions, though less frequently. Research into the function of the treacle protein and the mechanisms by which TCOF1 mutations lead to craniofacial defects is ongoing, aiming to improve diagnosis and develop potential therapeutic strategies.