基因名称：SOX10 （SRY-box 10）
别名： DOM,PCWH,WS2E,WS4,WS4C
基因ID：6663
Chromosome(GRCh37) ：22 Start: 38366693 End: 38383429 Strand: -1
信号通路： 细胞增殖
靶向药： 维莫非尼,威罗菲尼
化疗药：
简介：该基因编码参与调节胚胎发育和确定细胞命运的转录因子SOX（SRY相关HMG盒）家族的一个成员。编码蛋白与其它蛋白形成蛋白复合物后可作为转录激活剂。该蛋白作为核质穿梭蛋白，对神经嵴和周围神经系统发育具有重要意义。该基因突变与Waardenburg-Shah和Waardenburg-Hirschsprung病有关。This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease.
SOX10突变与药物：
LOSS
药物：
维莫非尼,威罗菲尼
疾病：
黑色素瘤
