Biology:A2ML1
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Short description: Protein-coding gene in humans
 Generic protein structure example |
Alpha-2-macroglobulin-like 1 abbreviated as α2ML1 is a protein that in humans is encoded by the A2ML1 gene.[1] α2ML1 is a large, 180 kDa protein found in the epidermis. It is able to the inhibit the chymotryptic activity of KLK7.[2]
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).[3] Alternative splicing results in multiple transcript variants.[1]
Clinical significance
Mutations in A2ML1 are associated to Noonan-like syndrome.[4]
References
- ↑ 1.0 1.1 "Entrez Gene: Alpha-2-macroglobulin-like 1". https://www.ncbi.nlm.nih.gov/gene/144568.
- ↑ "A novel protease inhibitor of the alpha2-macroglobulin family expressed in the human epidermis". J Biol Chem 281 (9): 5780–5789. November 2005. doi:10.1074/jbc.m508017200. PMID 16298998. http://www.jbc.org/content/281/9/5780.full.
- ↑ "The protease inhibitor alpha-2-macroglobulin-like-1 is the p170 antigen recognized by paraneoplastic pemphigus autoantibodies in human". PLOS ONE 5 (8): e12250. 2010. doi:10.1371/journal.pone.0012250. PMID 20805888. Bibcode: 2010PLoSO...512250S.
- ↑ "Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome". Eur. J. Hum. Genet. 23 (3): 317–24. 2014. doi:10.1038/ejhg.2014.115. PMID 24939586.
External links
- Human A2ML1 genome location and A2ML1 gene details page in the UCSC Genome Browser.
Further reading
- "Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease". Mol. Psychiatry 14 (11): 1004–16. 2009. doi:10.1038/mp.2009.10. PMID 19204726.
- "Binding of alpha2ML1 to the low density lipoprotein receptor-related protein 1 (LRP1) reveals a new role for LRP1 in the human epidermis". PLOS ONE 3 (7): e2729. 2008. doi:10.1371/journal.pone.0002729. PMID 18648652. Bibcode: 2008PLoSO...3.2729G.
- "Large-scale identification of human genes implicated in epidermal barrier function". Genome Biol. 8 (6): R107. 2007. doi:10.1186/gb-2007-8-6-r107. PMID 17562024.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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