alpha-2-macroglobulin | OKDB#: 5756 |
Symbols: | A2M | Species: | human | ||
Synonyms: | A2MD, CPAMD5, FWP007, S863-7 | Locus: | 12p13.31 in Homo sapiens |
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OMIM
Entrez Gene
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General Comment | NCBI 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] | ||||
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Mutations | 0 mutations | ||||
Genomic Region | show genomic region | ||||
Phenotypes and GWAS | show phenotypes and GWAS | ||||
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created: | April 9, 2020, 10:59 a.m. | by: |
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last update: | April 9, 2020, 10:59 a.m. | by: | system email: |
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