菜单 基因医生

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]