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Protein-coding gene in humans From Wikipedia, the free encyclopedia
Alpha-2-macroglobulin-like 1 abbreviated as α2ML1 is a protein that in humans is encoded by the A2ML1 gene.[3] α2ML1 is a large, 180 kDa protein found in the epidermis. It is able to the inhibit the chymotryptic activity of KLK7.[4]
A2ML1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | A2ML1, CPAMD9, alpha-2-macroglobulin like 1, p170, OMS | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 610627; HomoloGene: 67167; GeneCards: A2ML1; OMA:A2ML1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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).[5] Alternative splicing results in multiple transcript variants.[3]
Mutations in A2ML1 are associated to Noonan-like syndrome.[6]
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