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Genetics Home Reference: your guide to understanding genetic conditions
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A2M

The information on this page was extracted automatically from online scientific databases.

What is the official name of the A2M gene?

The official name of this gene is “alpha-2-macroglobulin.”

A2M is the gene's official symbol. The A2M gene is also known by other names, listed below.

What is the normal function of the A2M gene?

From Entrez Gene (http://view.ncbi.nlm.nih.gov/gene/2):

Alpha-2-macroglobulin is a protease inhibitor and cytokine transporter. It inhibits many proteases, including trypsin, thrombin and collagenase. A2M is implicated in Alzheimer disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. [provided by RefSeq]

From UniProt (http://www.uniprot.org/uniprot/P01023):

Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates the covalent binding of the protein to the proteinase.

How are changes in the A2M gene related to health conditions?

Entrez Gene (http://view.ncbi.nlm.nih.gov/gene/2) lists the following diseases or traits (phenotypes) known to be associated with changes in the A2M gene.
  • Alzheimer disease, susceptibility to[1]
  • Emphysema due to alpha-2-macroglobulin deficiency[2]
UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number		Main Topic
[1]104300 (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104300)ALZHEIMER DISEASE; AD
[2]103950 (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103950)ALPHA-2-MACROGLOBULIN; A2M

Where is the A2M gene located?

Cytogenetic Location: 12p13.3-p12.3

Molecular Location on chromosome 12: base pairs 9,220,303 to 9,268,557

The A2M gene is located on the short (p) arm of chromosome 12 between positions 13.3 and 12.3.

The A2M gene is located on the short (p) arm of chromosome 12 between positions 13.3 and 12.3.

More precisely, the A2M gene is located from base pair 9,220,303 to base pair 9,268,557 on chromosome 12.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about A2M?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103950)
  • Research Resources - Tools for researchers
    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_A2M.html)
    • Entrez Gene (http://view.ncbi.nlm.nih.gov/gene/2)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?gene=A2M)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=7)
    • UniProt (http://www.uniprot.org/uniprot/P01023)

What other names do people use for the A2M gene or gene products?

  • CPAMD5
  • DKFZp779B086
  • FWP007
  • S863-7

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding A2M?

amyloid ; beta-amyloid ; class ; cytokine ; deficiency ; emphysema ; enzyme ; mediate ; peptide ; protease ; protein ; susceptibility ; thrombin

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: November 20, 2009