Description
Product Characteristics:
Aliases: CDHS antibody, HUP 2 antibody, HUP2 antibody, MGC120381 antibody, MGC120382 antibody, MGC120383 antibody, MGC120384 antibody, MGC134778 antibody, Paired box 3 antibody, Paired box gene 3 antibody, Paired box homeotic gene 3 antibody, Paired box protein Pax 3 antibody, Paired box protein Pax-3 antibody, Paired box protein Pax3 antibody, Paired domain gene 3 antibody, Paired domain gene HuP2 antibody, PAX 3 antibody, Pax3 antibody, PAX3/FKHR fusion gene antibody, PAX3_HUMAN antibody, Sp antibody, splotch antibody, Waardenburg syndrome 1 antibody, WS 1 antibody, WS1 antibody, WS3 antibody
Target Information: 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. [provided by RefSeq, Jul 2008]