Alpha-2-macroglobulin-like 1 abbreviated as α2ML1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respon ...
that in humans is encoded by the A2ML1
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
α2ML1 is a large, 180 kDa
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respon ...
found in the
epidermis
The epidermis is the outermost of the three layers that comprise the skin, the inner layers being the dermis and Subcutaneous tissue, hypodermis. The epidermis layer provides a barrier to infection from environmental pathogens and regulates the ...
. It is able to the inhibit the chymotryptic activity of
KLK7
Kallikrein-related peptidase 7 (KLK7) is a serine protease that in humans is encoded by the ''KLK7'' gene. KLK7 was initially purified from the epidermis and characterised as stratum corneum chymotryptic enzyme (SCCE). It was later identified as t ...
.
Function
This gene encodes a member of the
alpha-macroglobulin superfamily. The encoded protein acts as an inhibitor for several
protease
A protease (also called a peptidase, proteinase, or proteolytic enzyme) is an enzyme that catalyzes (increases reaction rate or "speeds up") proteolysis, breaking down proteins into smaller polypeptides or single amino acids, and spurring the form ...
s, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease
paraneoplastic pemphigus
Paraneoplastic pemphigus (PNP) is an autoimmune disorder stemming from an underlying tumor. It is hypothesized that antigens associated with the tumor trigger an immune response resulting in blistering of the skin and mucous membranes.
While p ...
(PNP). Alternative splicing results in multiple transcript variants.
Clinical significance
Mutations in A2ML1 are associated to
Noonan-like syndrome.
References
External links
*
Further reading
*
*
*
Protease inhibitors
{{gene-12-stub