Entrez 144568 | Ensembl ENSG00000166535 | |
Aliases A2ML1, CPAMD9, alpha-2-macroglobulin like 1 External IDs HomoloGene: 67167 GeneCards: 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.
Contents
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
A2ML1 Wikipedia(Text) CC BY-SA