CTNNB1是致癌基因，编码蛋白为β-连环蛋白（β-catenin），是一种参与WNT信号传导途径的转录激活因子。在不存在WNT配体的情况下，β-连环蛋白通过其与APC / AXIN破坏复合物的相互作用而被隔离在胞质溶胶中。WNT配体与受体结合会破坏APC / AXIN破坏复合物，释放β-连环蛋白进入细胞核并通过与TCF / LEF家族的转录因子相互作用介导靶基因活化。β-连环蛋白也影响细胞-细胞粘附和细胞迁移。 CTNNB1体细胞的功能获得性突变导致β-连环蛋白的异常积累，在子宫/子宫内膜癌，卵巢癌，肝细胞癌和结直肠癌在内的多种实体瘤中普遍存在。

CTNNB1 encodes the protein β-catenin, a transcriptional activator involved in the WNT signaling pathway. In the absence of WNT ligands, β-catenin is sequestered in the cytosol by its interaction with the APC/AXIN destruction complex. This destruction complex includes GSK3β, a kinase responsible for phosphorylating key β-catenin residues and targeting β-catenin for degradation. Engagement of WNT receptors by WNT ligands results in disruption of the APC/AXIN destruction complex, freeing β-catenin to transit into the nucleus and mediate target gene activation by interaction with transcription factors of the TCF/LEF family. Important transcriptional targets of β-catenin/TCF include Cyclin D1 and MYC. β-catenin also influences cell-cell adhesion and cell migration. Somatic gain-of-function mutations in CTNNB1 result in aberrant accumulation of the β-catenin protein and are prevalent in a wide range of solid tumors, including uterine/endometrial carcinoma, ovarian, hepatocellular carcinoma, and colorectal carcinoma, among others. Cancers with CTNNB1 mutations are presumed to be resistant to pharmacologic inhibition of upstream components of the WNT pathway, instead requiring direct inhibition of β-catenin function.

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