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PAX3 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.
Gene Name: | paired box 3 |
Synonyms: | PAX3, CDHS, Paired domain gene 3, Paired box protein Pax-3, Paired domain gene HuP2, Waardenburg syndrome 1, WS1, HUP2, Paired box 3, Paired box homeotic gene 3, WS3 |
Target Sequences: | NM_000438 NP_000429.2 |
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