Paired Box Gene 3 (PAX3)

PAX3 is a gene that belongs to the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. It transcribes a 479 amino acid protein in humans.The gene coding for this transcription factor has locus at band 2q35-37.3.

PAX3 has been identified with ear, eye and facial development. Mutations in it can cause Waardenburg syndrome types 1 and 3 . 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.