A2ML1

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

Function
This gene encodes a member of the is_associated_with::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 is_associated_with::paraneoplastic pemphigus (PNP). Alternative splicing results in multiple transcript variants.

Clinical significance
Mutations in A2ML1 are associated to Noonan-like syndrome.