基因名：
PAX3
产品别名：
CDHS； HUP2； PAX-3； WS1； WS3； PAX3； paired box 3； paired box 3； paired box protein Pax-3； paired box homeotic gene 3； paired domain gene 3； paired domain gene HuP2； transcriptional factor PAX3； 配对盒基因3；
背景信息：
This protein 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 proteins 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.
