A2M

该基因编码的蛋白质是蛋白酶抑制剂和细胞因子转运体它使用诱饵和诱捕机制来抑制广泛的蛋白酶,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。该基因突变是α-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的清除和降解,a-β是β淀粉样沉积的主要成分。一个相关的假基因,也位于12号染色体的p臂上,已经被鉴定出来。[由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]

别名

A2MD,CPAMD5,FWP007,S863-7

基因id

Chromosome:12 Start: 9220304 End: 9268558 Strand: 

药物

突变与药物

更多>>

相关基因检测

genes