A2ML1

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
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RefSeq (mRNA)

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RefSeq (protein)

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Alpha-2-macroglobulin-like 1 abbreviated as α2ML1 is a protein that in humans is encoded by the A2ML1 gene.[1] α2ML1 is a large, 180 kDa protein found in the epidermis. It is able to the inhibit the chymotryptic activity of KLK7.[2]

Function

This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein acts as an inhibitor for several proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP).[3] Alternative splicing results in multiple transcript variants.[1]

Clinical significance

Mutations in A2ML1 are associated to Noonan-like syndrome .[4]

References

  1. 1.0 1.1 "Entrez Gene: Alpha-2-macroglobulin-like 1".
  2. Galliano MF, Toulza E, Gallinaro H, Jonca N, Ishida-Yamamoto A, Serre G, Guerrin M (November 2005). "A novel protease inhibitor of the alpha2-macroglobulin family expressed in the human epidermis". J Biol Chem. 281 (9): 5780–5789. doi:10.1074/jbc.m508017200. PMID 16298998.
  3. Schepens I, Jaunin F, Begre N, Läderach U, Marcus K, Hashimoto T, Favre B, Borradori L (2010). "The protease inhibitor alpha-2-macroglobulin-like-1 is the p170 antigen recognized by paraneoplastic pemphigus autoantibodies in human". PLoS ONE. 5 (8): e12250. doi:10.1371/journal.pone.0012250. PMC 2923615. PMID 20805888.
  4. Vissers LE, Bonetti M, Paardekooper Overman J, Nillesen WM, Frints SG, de Ligt J, Zampino G, Justino A, Machado JC, Schepens M, Brunner HG, Veltman JA, Scheffer H, Gros P, Costa JL, Tartaglia M, van der Burgt I, Yntema HG, den Hertog J (2014). "Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome". Eur. J. Hum. Genet. 23: 317–24. doi:10.1038/ejhg.2014.115. PMC 4326711. PMID 24939586.

External links

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.