A2ML1
A2ML1 (Alpha-2-Macroglobulin Like 1) is a protein that in humans is encoded by the A2ML1 gene. This protein is part of the alpha-2-macroglobulin family and is primarily expressed in the skin, where it plays a crucial role in protecting the skin from pathogens and maintaining skin health.
Function[edit | edit source]
The A2ML1 protein is a protease inhibitor and binding protein. Protease inhibitors are proteins that can inhibit the function of protease enzymes, which are responsible for breaking down other proteins. By inhibiting these enzymes, A2ML1 can help to prevent the breakdown of important proteins in the skin.
In addition to its role as a protease inhibitor, A2ML1 also acts as a binding protein. It can bind to various other proteins and molecules, helping to regulate their activity and prevent them from causing damage to the skin.
Clinical significance[edit | edit source]
Mutations in the A2ML1 gene have been associated with a number of skin conditions, including atopic dermatitis and otitis media. These conditions are characterized by inflammation and damage to the skin or ear, respectively, and are thought to be caused by an overactive immune response. By studying the role of A2ML1 in these conditions, researchers hope to develop new treatments and therapies.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD