• Source: A2ML1

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




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). Alternative splicing results in multiple transcript variants.




Clinical significance


Mutations in A2ML1 are associated to Noonan-like syndrome.




References






External links


Human A2ML1 genome location and A2ML1 gene details page in the UCSC Genome Browser.




Further reading



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

Kata Kunci Pencarian:

• Daftar gen penyandi protein pada manusia/1
• A2ML1
• RASopathy
• List of human protein-coding genes 1
• Oligella (bacterium)
• Paraneoplastic pemphigus