Gene Symbol | A2M |
Entrez Gene ID | 2 |
Full Name | alpha-2-macroglobulin |
Synonyms | A2MD,CPAMD5,FWP007,S863-7 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Alpha-2-macroglobulin deficiency, 614036 (1); {Alzheimer disease, susceptibility to}, 104300 (3) |