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CDC42基因突变与药物因子介绍

2022.7.25

该基因编码的蛋白是rho亚家族的一个小gtpase,它调节控制细胞形态、迁移、内吞和细胞周期进程等多种细胞功能的信号传导途径。该蛋白与酿酒酵母cdc42高度相似,并能与酵母cdc42-1突变株互补。据报道,癌基因dbl的产物对gdp与该蛋白的分离具有特异性催化作用。该蛋白通过与神经性wiskott-aldrich综合征蛋白(n-wasp)直接结合调节肌动蛋白聚合,进而激活arp2/3复合物。该基因的选择性剪接导致多个转录变体。在第3、4、5、7、8和20号染色体上发现了该基因的假基因。[由RefSeq提供,2013年4月]
The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes of this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013]

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