A2ML1

Summary

Gene Symbol: A2ML1
Description: alpha-2-macroglobulin like 1
Alias: CPAMD9, p170, alpha-2-macroglobulin-like protein 1, C3 and PZP-like, alpha-2-macroglobulin domain containing 9
Species: human
Products:     A2ML1

Top Publications

  1. Toulza E, Mattiuzzo N, Galliano M, Jonca N, Dossat C, Jacob D, et al. Large-scale identification of human genes implicated in epidermal barrier function. Genome Biol. 2007;8:R107 pubmed
    ..These data increase the present knowledge of genes responsible for the formation of the skin barrier and suggest new candidates for genodermatoses of unknown origin. ..
  2. Galliano M, Toulza E, Jonca N, Gonias S, Serre G, Guerrin M. 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. 2008;3:e2729 pubmed publisher
    ..Our findings are consistent with endocytosis by LRP1 of complexes formed between alpha2ML1 and proteases. LRP1 may thus control desquamation by regulating the biodisponibility of extracellular proteases. ..
  3. Galliano M, Toulza E, Gallinaro H, Jonca N, Ishida Yamamoto A, Serre G, et al. A novel protease inhibitor of the alpha2-macroglobulin family expressed in the human epidermis. J Biol Chem. 2006;281:5780-9 pubmed
    ..the human epidermis, we identified a new member of the alpha(2)-macroglobulin (alpha2M) protease inhibitor family, A2ML1 (for alpha(2)-macroglobulin-like 1). Like A2M and PZP, A2ML1 is located on chromosome 12p13.31...
  4. Wen X, Zhang X, Hu Y, Xu J, Wang T, Yin S. iTRAQ-based quantitative proteomic analysis of Takifugu fasciatus liver in response to low-temperature stress. J Proteomics. 2019;201:27-36 pubmed publisher
    ..significantly up-regulated proteins (CIRB, HSP90 and GST) and two significantly down-regulated proteins (FLNB and A2ML1) were validated with parallel reaction monitoring (PRM) assays...
  5. Zhang W, Cui Q, Qu W, Ding X, Jiang D, Liu H. TRIM58/cg26157385 methylation is associated with eight prognostic genes in lung squamous cell carcinoma. Oncol Rep. 2018;40:206-216 pubmed publisher
    ..associated with prognosis were gained, and the top 8 ones, including alpha‑2‑macroglobulin‑like 1 (A2ML1), cyclin‑E1 (CCNE1), COBL, establishment of sister chromatid cohesion N‑acetyltransferase 2 (ESCO2), G proteinâ..
  6. la Paz E, Pedro M, Yarza T, Lagrana Villagracia S, Amoranto A, Jover E, et al. Genetic counseling in an indigenous Filipino community with a high prevalence of A2ML1-related otitis media. J Community Genet. 2019;10:143-151 pubmed publisher
    ..otitis media of an indigenous Filipino community with a high prevalence of otitis media that is associated with an A2ML1 variant. Community lectures and individual genetic counseling were provided as intervention...
  7. Amber K, Valdebran M, Grando S. Paraneoplastic autoimmune multiorgan syndrome (PAMS): Beyond the single phenotype of paraneoplastic pemphigus. Autoimmun Rev. 2018;17:1002-1010 pubmed publisher
    ..Autoantibodies in PAMS target a wide array of antigens including plakins, cadherins, alpha-2-macroglobulin like 1 (A2ML1), BP180, plakophilin-3, and several neuromuscular antigens...
  8. Leung G, Luk H, Tang V, Gao W, Mak C, Yu M, et al. Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies. Sci Rep. 2018;8:2421 pubmed publisher
    ..functional assessment supported the pathogenicity of the RAF1 and RIT1 VUSs, while the significance of two VUSs in A2ML1 remained unclear. In summary, functional analysis improved the diagnostic yield from 31.7% to 36.5%...
  9. Schepens I, Jaunin F, Begre N, Läderach U, Marcus K, Hashimoto T, et al. The protease inhibitor alpha-2-macroglobulin-like-1 is the p170 antigen recognized by paraneoplastic pemphigus autoantibodies in human. PLoS ONE. 2010;5:e12250 pubmed publisher
    ..We demonstrate that 10 PNP sera recognize alpha-2-macroglobuline-like-1 (A2ML1), while none of the control sera obtained from patients with bullous pemphigoid, pemphigus vulgaris, pemphigus ..

More Information

Publications16

  1. Numata S, Teye K, Tsuruta D, Sogame R, Ishii N, Koga H, et al. Anti-?-2-macroglobulin-like-1 autoantibodies are detected frequently and may be pathogenic in paraneoplastic pemphigus. J Invest Dermatol. 2013;133:1785-93 pubmed publisher
    ..We have recently identified alpha-2-macroglobulin-like-1 (A2ML1), a broad range protease inhibitor, as a unique PNP antigen...
  2. Vissers L, Bonetti M, Paardekooper Overman J, Nillesen W, Frints S, de Ligt J, et al. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome. Eur J Hum Genet. 2015;23:317-24 pubmed publisher
    ..Arg802His), in A2ML1, which encodes the secreted protease inhibitor ?-2-macroglobulin (A2M)-like-1...
  3. van Trier D, van Nierop J, Draaisma J, van der Burgt I, Kunst H, Croonen E, et al. External ear anomalies and hearing impairment in Noonan Syndrome. Int J Pediatr Otorhinolaryngol. 2015;79:874-8 pubmed publisher
    ..in 5 patients in SHOC2, in 5 patients in RAF1, in 1 patient in MAP2K2, in 1 patient in KRAS and in 1 patient in A2ML1. External ear anomalies were reported in 75 NS patients (77%)...
  4. Santos Cortez R, Reyes Quintos M, Tantoco M, Abbe I, Llanes E, Ajami N, et al. Genetic and Environmental Determinants of Otitis Media in an Indigenous Filipino Population. Otolaryngol Head Neck Surg. 2016;155:856-862 pubmed
    ..Otoscopic findings were described for the presence and character of perforation or discharge. An A2ML1 duplication variant that confers otitis media susceptibility was Sanger sequenced in all DNA samples...
  5. Santos Cortez R, Chiong C, Reyes Quintos M, Tantoco M, Wang X, Acharya A, et al. Rare A2ML1 variants confer susceptibility to otitis media. Nat Genet. 2015;47:917-20 pubmed publisher
    A duplication variant within the middle ear-specific gene A2ML1 cosegregates with otitis media in an indigenous Filipino pedigree (LOD score = 7...
  6. Santos Cortez R, Hutchinson D, Ajami N, Reyes Quintos M, Tantoco M, Labra P, et al. Middle ear microbiome differences in indigenous Filipinos with chronic otitis media due to a duplication in the A2ML1 gene. Infect Dis Poverty. 2016;5:97 pubmed
    Previously rare A2ML1 variants were identified to confer otitis media susceptibility in an indigenous Filipino community and in otitis-prone US children...
  7. Yu L, Dawe R, Boyle P, Gaiteri C, Yang J, Buchman A, et al. Association Between Brain Gene Expression, DNA Methylation, and Alteration of Ex Vivo Magnetic Resonance Imaging Transverse Relaxation in Late-Life Cognitive Decline. JAMA Neurol. 2017;74:1473-1480 pubmed publisher
    ..genes (PADI2 [Ensembl ENSG00000117115], ZNF385A [Ensembl ENSG00000161642], PSD2 [Ensembl ENSG00000146005], and A2ML1 [Ensembl ENSG00000166535]) were identified, of which higher expressions were associated with slower R2...