A2ML1

Alpha-2-macroglobulin-like 1 abbreviated as α2ML1 is a protein that in humans is encoded by the A2ML1 gene.^[3] α2ML1 is a large, 180 kDa protein found in the epidermis. It is able to the inhibit the chymotryptic activity of KLK7.^[4]

A2ML1
Identifiers
Aliases	A2ML1, CPAMD9, alpha-2-macroglobulin like 1, p170, OMS
External IDs	OMIM: 610627; HomoloGene: 67167; GeneCards: A2ML1; OMA:A2ML1 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12p13.31 Start 8,822,621 bp[1] End 8,887,001 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gums gingival epithelium mucosa of pharynx oral cavity body of tongue human penis skin of abdomen skin of leg buccal mucosa cell vulva n/a More reference expression data BioGPS n/a
Gene ontology Molecular function serine-type endopeptidase inhibitor activity endopeptidase inhibitor activity peptidase inhibitor activity Cellular component extracellular region extracellular exosome extracellular space Biological process negative regulation of endopeptidase activity negative regulation of peptidase activity regulation of endopeptidase activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 144568 n/a Ensembl ENSG00000166535 n/a UniProt A8K2U0 H0YGG5 n/a RefSeq (mRNA) NM_001282424 NM_144670 n/a RefSeq (protein) NP_001269353 NP_653271 n/a Location (UCSC) Chr 12: 8.82 – 8.89 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

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).^[5] Alternative splicing results in multiple transcript variants.^[3]

Clinical significance

Mutations in A2ML1 are associated to Noonan-like syndrome.^[6]