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2024-07-11 11:34| 来源: 网络整理| 查看: 265

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该基因编码的蛋白质是一种蛋白酶抑制剂和细胞因子转运蛋白。它使用诱饵和陷阱机制来抑制广谱蛋白酶,包括胰蛋白酶、凝血酶和胶原酶。它还可以抑制炎症细胞因子,从而破坏炎症级联反应。该基因的突变是 alpha-2-巨球蛋白缺乏症的一个原因。该基因与阿尔茨海默病 (AD) 有关,因为它能够介导 A-β (β-淀粉样蛋白沉积物的主要成分) 的清除和降解。已经鉴定出一个相关的假基因,它也位于 12 号染色体的 p 臂上。[RefSeq 提供,2016 年 11 月]

The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, Thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [provided by RefSeq, Nov 2016]



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