PAX3

PAX3 has been identified with ear, eye and facial development. It transcribes a 479 amino acid protein in humans. Mutations in it can cause Waardenburg syndrome. It is expressed in early embryonic phases in dermatomyotome of paraxial mesoderm which it helps to demarcate. In that way PAX3 contributes to early striated muscle development since all myoblasts are derived from dermatomyotome of paraxial mesoderm. Interestingly, PAX3/FKHR fusion gene is often found in some forms of rhabdomyosarcoma, a kind of cancer arisen from striated muscle cells.