SOX9
小结
SOX9编码蛋白是（性别决定区Y框9）一种转录因子，参与器官和骨骼发育。SOX9广泛表达，并调节多种发育过程，如胚胎细胞命运决定、软骨生成和睾丸形成；然而，SOX9也在发育的组织中发挥作用。SOX9是WNT信号通路的转录靶点，也是WNT信号通路靶基因的调节子。此外，SOX9可通过促进β-连环蛋白磷酸化来促进其降解。SOX9的有害突变可导致发育障碍；SOX9的突变也在其他各种疾病中有影响。SOX9突变在结直肠癌中是常见，并且SOX9的失调与多种组织类型的癌症发展有关。
The SOX9 (Sex-determining Region Y box 9) gene encodes a transcription factor involved in organ and skeletal development. It is expressed widely throughout the body and regulates multiple developmental processes, such as embryonal cell-fate determination, chondrogenesis and testis formation; however, SOX9 also functions in developed tissues. SOX9 is a transcriptional target of the WNT pathway, but also functions as a regulator of WNT pathway target genes. Additionally, SOX9 can facilitate β-catenin degradation by promoting its phosphorylation. Due to its role in development, deleterious mutations of SOX9 can cause developmental disorders; mutations of SOX9 are also implicated in various other disorders. SOX9 mutations are frequent in colorectal cancer and dysregulation of SOX9 is implicated in cancer development in multiple tissue types .