PAX3 [C2]

PAX3 (Paired Box 3) is a member of the paired box (PAX) family of transcription factors involved in development of the peripheral nervous system, melanocytes, some vascular smooth muscle, and a number of other derivatives. It regulates neurogenesis in pre-migratory neural crest cells from the dorsal neural tube, and in myogenic progenitors in the presomitic mesoderm and the hypaxial somites. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini.