This gene is a member of the paired box (PAX) family of transcription factors. 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.
PAX3; paired box 3; paired box gene 3 (Waardenburg syndrome 1) , Waardenburg syndrome 1 , WS1; paired box protein Pax-3; HUP2; paired domain gene 3; paired domain gene HuP2; paired box homeotic gene 3; WS1; WS3; CDHS; MGC120381; MGC120382; MGC120383; MGC; MGC120384; MGC134778; CDHS, HUP2, MGC120381, MGC120382, MGC120383, MGC120384, MGC134778, WS1, WS3,PAX3; paired box gene 3; Paired-box transcription factor protein PAX3