PAX9


Description

The PAX9 (paired box 9) is a protein-coding gene located on chromosome 14.

PAX9, also known as Paired box gene 9, is a protein encoded by the PAX9 gene in humans and other mammals. It belongs to the paired box (PAX) family of transcription factors. Its expression starts in the early stages of mouse embryogenesis (around embryonic day 8.5) and becomes more prominent by day 9.5, initially restricted to the pharyngeal endoderm. Later, it is also expressed in the axial skeleton. PAX9 is crucial for the development of craniofacial structures, teeth, and limbs. It may also play a broader role in the development of stratified squamous epithelia, various organs, and skeletal elements. PAX9 has been linked to the absence of wisdom teeth in some human populations, possibly along with AXIN2 and MSX1. Amplification of the PAX9 gene has been observed in lung cancer, suggesting its involvement in the growth and development of this disease. This amplification often occurs alongside other tissue developmental genes like TTF1 and NKX2-8, indicating a potential synergistic effect in promoting cancer cell growth.

PAX9 is also known as STHAG3.

Associated Diseases


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