菜单 基因医生

该基因编码一种细胞质蛋白,包含一个g蛋白信号(rgs)结构域和一个不规则的axin(dix)结构域。编码蛋白与大肠腺瘤性息肉病、连环蛋白β1、糖原合成酶激酶3β、蛋白磷酸2及自身相互作用。该蛋白作为无翅型mmtv整合位点家族成员1(wnt)信号通路的负调控因子,可诱导细胞凋亡。这种蛋白质的一部分的晶体结构,单独的和与其他蛋白质的复合物,已经被解决了。该基因突变与肝细胞癌、肝母细胞瘤、卵巢子宫内膜腺癌和髓质母细胞瘤有关。选择性剪接导致多个转录变体。[由RefSeq提供,2016年1月]
This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

基因名:AXIN1
别名:AXIN,PPP1R49
基因ID:8312
Chromosome:
(GRCh37)
16 Start: 337440 End: 405244 Strand: 
信号通路: 肿瘤干细胞 
AXIN1 基因突变与药物