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.
Aliases: WS1; WS3; CDHS; HUP2
Entrez GeneID : 5077
Swissprot : P23760
WB Predicted band size: 53kDa
Host/Isotype: Mouse IgG1
Species Reactivity: Human,Mouse
Immunogen: Purified recombinant fragment of human PAX3 (AA: 142-203) expressed in E. Coli.
