axin相关蛋白axin2可能在wnt信号通路中调节β连环蛋白的稳定性方面起重要作用,与其啮齿动物同源物鼠导蛋白/大鼠axil类似。在小鼠中,Conductin组织了APC(结肠腺瘤性息肉病)、β-连环蛋白、糖原合成酶激酶3-β和Conductin的多蛋白复合物,导致β-连环蛋白降解。显然,β连环蛋白的放松调节是许多恶性肿瘤发生的一个重要事件。axin2基因已被定位到17q23-q24,该区域在乳腺癌、神经母细胞瘤和其他肿瘤中显示出频繁的杂合性缺失。该基因突变与大肠癌错配修复缺陷有关。[由RefSeq提供,2008年7月]
The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. [provided by RefSeq, Jul 2008]

基因名:AXIN2
别名:AXIL,ODCRCS
基因ID:8313
Chromosome:
(GRCh37)
17 Start: 63524681 End: 63557740 Strand: 
信号通路: 肿瘤干细胞  遗传相关 
AXIN2 基因突变与药物

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