Paired Box Protein Pax-9 (PAX9) Protein

Background

PAX9 is a transcription factor critical for embryonic development, particularly in skeletal and craniofacial formation, tooth development, and pharyngeal arch patterning. It regulates the expression of genes essential for tooth morphogenesis, including odontogenesis, ensuring the correct formation of dental structures such as molars and incisors. Mutations in PAX9 lead to oligodontia, a condition characterized by the congenital absence of multiple teeth, and are also associated with cleft palate and jaw malformations. PAX9 interacts with other transcription factors like MSX1 to coordinate craniofacial and dental development. In knockout models, PAX9 deficiency results in arrested tooth development, defective craniofacial structures, and impaired skeletal patterning. Its essential role in epithelial-mesenchymal interactions during organogenesis underscores its importance in tissue-specific development, tooth regeneration, and congenital anomalies.