A2ML1
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). 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
[edit | edit source]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
[edit | edit source]Mutations in A2ML1 are associated to Noonan-like syndrome.[4]
References
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External links
[edit | edit source]- Human A2ML1 genome location and A2ML1 gene details page in the UCSC Genome Browser.
Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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