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CTNND2基因编码功能及结构描述

2022.8.09

这个基因编码犰狳/β-连环蛋白超家族的一个粘附连接相关蛋白,与大脑和眼睛的发育和癌症的形成有关该基因编码的蛋白促进E-钙粘蛋白为基础的粘附连接的破坏,有利于细胞在肝细胞生长因子刺激下的扩散该基因在前列腺腺癌中过度表达,与肿瘤抑制因子e-cadherin在该组织中的表达减少有关。该基因位于5号染色体短臂的一个区域,在Cri-du-Chat综合征中被删除选择性剪接导致编码不同亚型的多个转录变体[由RefSeq提供,2013年12月]

This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

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