新医学Issue(1)：9-11,3.DOI:10.3969/g.issn.0253-9802.2014.01.003
RN A聚合酶Ⅱ转录调节物12基因突变在人类疾病发病中的研究进展
Progress of research on mutations of MED 12 in the pathogenesis of human disease
袁冬兰 1王华 1叶军 1沙敏1
作者信息
- 1. 225300 泰州，江苏省泰州市人民医院
- 折叠
摘要
Abstract
Mediator of RNA polymerase Ⅱ transcription 1 2 (MED1 2),is a subunit of the Mediator complex,which is thought to regulate transcription in eukaryotes and moderate receptor tyrosine kinase,nuclear receptor and Wnt pathway signaling. Moreover,MED1 2 plays a key role in an evolutionary conserved region.However,there are some hot mutation sites in MED1 2 gene sequences. The different mutation sites of this pro-tein can link to distinct diseases,such as Opitz-Kaveggia syndrome,Lujan syndrome,uterine leiomyomas, prostate cancer et al. This article focused on MED1 2 mutation sites in related diseases,and try to provide new ideas for clinical diagnosis and treatment,for better understand the function of MED1 2 gene.关键词
核糖核酸聚合酶Ⅱ转录调节物12/中介体复合物/突变/疾病Key words
MED1 2/Mediator complex/Mutation/Disease引用本文复制引用
袁冬兰,王华,叶军,沙敏..RN A聚合酶Ⅱ转录调节物12基因突变在人类疾病发病中的研究进展[J].新医学,2014,(1):9-11,3.
