A2ML1

Alpha-2-macroglobulin-like 1
Identifiers
Symbols	A2ML1 ; CPAMD9
External IDs	OMIM: 610627 HomoloGene: 67167 GeneCards: A2ML1 Gene
Gene ontology Molecular function • serine-type endopeptidase inhibitor activity • peptidase inhibitor activity Cellular component • extracellular space • extracellular exosome Biological process • negative regulation of endopeptidase activity • regulation of endopeptidase activity Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	144568	n/a
Ensembl	ENSG00000166535	n/a
UniProt	A8K2U0	n/a
RefSeq (mRNA)	NM_001282424	n/a
RefSeq (protein)	NP_001269353	n/a
Location (UCSC)	Chr 12: 8.82 – 8.89 Mb	n/a
PubMed search		n/a

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. "Entrez Gene: Alpha-2-macroglobulin-like 1".
2. Galliano MF, Toulza E, Gallinaro H, Jonca N, Ishida-Yamamoto A, Serre G, Guerrin M. (November 2005). "A novel protease inhibitor of the alpha2-macroglobulin family expressed in the human epidermis". J Biol Chem. 281 (9): 5780–5789. doi:10.1074/jbc.m508017200.
3. Schepens I, Jaunin F, Begre N, Läderach U, Marcus K, Hashimoto T, Favre B, Borradori L (2010). "The protease inhibitor alpha-2-macroglobulin-like-1 is the p170 antigen recognized by paraneoplastic pemphigus autoantibodies in human". PLoS ONE 5 (8): e12250. doi:10.1371/journal.pone.0012250. PMC 2923615. PMID 20805888.
4. Vissers LE, Bonetti M, Paardekooper Overman J, Nillesen WM, Frints SG, de Ligt J, Zampino G, Justino A, Machado JC, Schepens M, Brunner HG, Veltman JA, Scheffer H, Gros P, Costa JL, Tartaglia M, van der Burgt I, Yntema HG, den Hertog J (2014). "Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome". Eur. J. Hum. Genet. doi:10.1038/ejhg.2014.115. PMID 24939586.

Further reading

• Chapuis J, Hot D, Hansmannel F, Kerdraon O, Ferreira S, Hubans C, Maurage CA, Huot L, Bensemain F, Laumet G, Ayral AM, Fievet N, Hauw JJ, DeKosky ST, Lemoine Y, Iwatsubo T, Wavrant-Devrièze F, Dartigues JF, Tzourio C, Buée L, Pasquier F, Berr C, Mann D, Lendon C, Alpérovitch A, Kamboh MI, Amouyel P, Lambert JC (2009). "Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease". Mol. Psychiatry 14 (11): 1004–16. doi:10.1038/mp.2009.10. PMC 2860783. PMID 19204726.
• Galliano MF, Toulza E, Jonca N, Gonias SL, Serre G, Guerrin M (2008). "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. doi:10.1371/journal.pone.0002729. PMC 2453322. PMID 18648652.
• Toulza E, Mattiuzzo NR, Galliano MF, Jonca N, Dossat C, Jacob D, de Daruvar A, Wincker P, Serre G, Guerrin M (2007). "Large-scale identification of human genes implicated in epidermal barrier function". Genome Biol. 8 (6): R107. doi:10.1186/gb-2007-8-6-r107. PMC 2394760. PMID 17562024.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.