Description
Product Characteristics: PAX3, WS1, CDHS, HUP2, paired box gene 3 (Waardenburg syndrome 1), paired domain gene 3, paired box homeotic gene 3 (Waardenburg syndrome 1), paired box 3, MGC120381, MGC120382, MGC120383, MGC120384, MGC134778, paired box homeotic gene 3, paired domain gene HuP2
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]