RNF43
小结
RNF43是抑癌基因，编码蛋白是环指蛋白43，是一种具有泛素连接酶活性的跨膜蛋白。它通过泛素化和蛋白质降解作用来控制卷曲受体蛋白表达，从而抑制Wnt信号通路。它与配体R-spondin结合并抑制其活性。RNF43在LGR5阳性的结肠干细胞中表达，并通过Wnt信号通路调节其生长和分化。在结直肠、子宫内膜、卵巢、胃癌、胆管癌和胰腺肿瘤常见RNF43突变。RNF43突变表现为功能丧失，并可能导致对Wnt通路抑制剂治疗的易感性。
RNF43 encodes for ring finger protein 43 is a transmembrane protein that has ubiquitin ligase activity. It inhibits the Wnt pathway signaling by controlling Frizzled receptor expression through ubiquitination and protein degradation. It binds to the ligand R-spondin which inhibits its activity. RNF43 is expressed in LGR5 positive colonic stem cells and regulates their growth and differentiation through Wnt signaling. Mutations are found in colorectal, endometrial, ovarian, gastric, cholangiocarcinoma, and pancreatic neoplasms. Mutations have been characterized as loss of function and may lead to susceptibility to treatment with Wnt pathway inhibitors.