基因名称:PAX3 (paired box 3)
别名: WS1,WS3,CDHS,HUP2
基因ID:5077
Chromosome(GRCh37) :2 Start: 223064606 End: 223163715 Strand:
信号通路:
靶向药:
化疗药:
简介:该基因是PAX家族转录因子的一个成员pax家族成员通常包含一个配对盒域和一个配对型同源域。这些基因在胎儿发育过程中起着关键作用配对盒基因3突变与Waardenburg综合征、颅面耳聋手综合征和肺泡横纹肌肉瘤相关t(2;13)(q35;q14)易位是肺泡型横纹肌肉瘤的常见表现,它代表PAX3与叉头基因的融合选择性剪接导致编码不同c末端亚型的转录本。[由RefSeq提供,2008年7月]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]
PAX3突变与药物: