PAX3(redirected from Waardenburg syndrome 1)
Notation for Waardenburg types 1 and 3 syndrome gene.
PAX3A gene on chromsome 2q35-q37 that encodes a member of the paired box (PAX) family of transcription factors, which usually have a paired box domain and a paired homeodomain, and play key roles in foetal development.
PAX3 mutations are associated with Waardenburg syndrome and craniofacial-deafness-hand syndrome. The translocation t(2;13)(q35;q14), which results in a fusion between PAX3 and the forkhead gene, is often present in alveolar rhabdomyosarcoma.