This gene encodes an elastase-specific protease inhibitor, which contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster.[3]
Clinical significance
Elafin has been found to have utility in serving as a biomarker for graft versus host disease of the skin.[4]
↑Molhuizen HO, Zeeuwen PL, Olde Weghuis D, Geurts van Kessel A, Schalkwijk J (Feb 1994). "Assignment of the human gene encoding the epidermal serine proteinase inhibitor SKALP (PI3) to chromosome region 20q12→q13". Cytogenet Cell Genet. 66 (2): 129–31. doi:10.1159/000133683. PMID8287685.
↑Paczesny S, Levine JE, Hogan J, Crawford J, Braun TM, Wang H, Faca V, Zhang Q, Pitteri S, Chin A, Choi SW, Kitko CL, Krijanovski OI, Reddy P, Mineishi S, Whitfield J, Jones S, Hanash SM, Ferrara JLM (February 2009). "[Elafin is a Biomarker of Graft Versus Host Disease of the Skin". Biology of Blood and Marrow Transplantation. 15 (2 Suppl 1): 13–14. doi:10.1016/j.bbmt.2008.12.039.
Saheki T, Ito F, Hagiwara H, et al. (1992). "Primary structure of the human elafin precursor preproelafin deduced from the nucleotide sequence of its gene and the presence of unique repetitive sequences in the prosegment". Biochem. Biophys. Res. Commun. 185 (1): 240–5. doi:10.1016/S0006-291X(05)80981-7. PMID1339270.
Sallenave JM, Marsden MD, Ryle AP (1992). "Isolation of elafin and elastase-specific inhibitor (ESI) from bronchial secretions. Evidence of sequence homology and immunological cross-reactivity". Biol. Chem. Hoppe-Seyler. 373 (1): 27–33. doi:10.1515/bchm3.1992.373.1.27. PMID1536690.
Chang A, Schalkwijk J, Happle R, van de Kerkhof PC (1990). "Elastase-inhibiting activity in scaling skin disorders". Acta Derm. Venereol. 70 (2): 147–51. PMID1969201.
Schalkwijk J, de Roo C, de Jongh GJ (1991). "Skin-derived antileukoproteinase (SKALP), an elastase inhibitor from human keratinocytes. Purification and biochemical properties". Biochim. Biophys. Acta. 1096 (2): 148–54. doi:10.1016/0925-4439(91)90053-c. PMID2001428.
Sallenave JM, Ryle AP (1991). "Purification and characterization of elastase-specific inhibitor. Sequence homology with mucus proteinase inhibitor". Biol. Chem. Hoppe-Seyler. 372 (1): 13–21. doi:10.1515/bchm3.1991.372.1.13. PMID2039600.
Wiedow O, Schröder JM, Gregory H, et al. (1990). "Elafin: an elastase-specific inhibitor of human skin. Purification, characterization, and complete amino acid sequence". J. Biol. Chem. 265 (25): 14791–5. PMID2394696.
Molhuizen HO, Alkemade HA, Zeeuwen PL, et al. (1993). "SKALP/elafin: an elastase inhibitor from cultured human keratinocytes. Purification, cDNA sequence, and evidence for transglutaminase cross-linking". J. Biol. Chem. 268 (16): 12028–32. PMID7685029.
Zhang M, Zou Z, Maass N, Sager R (1995). "Differential expression of elafin in human normal mammary epithelial cells and carcinomas is regulated at the transcriptional level". Cancer Res. 55 (12): 2537–41. PMID7780965.
Sallenave JM, Silva A (1993). "Characterization and gene sequence of the precursor of elafin, an elastase-specific inhibitor in bronchial secretions". Am. J. Respir. Cell Mol. Biol. 8 (4): 439–45. doi:10.1165/ajrcmb/8.4.439. PMID8476637.
Tsunemi M, Matsuura Y, Sakakibara S, Katsube Y (1996). "Crystal structure of an elastase-specific inhibitor elafin complexed with porcine pancreatic elastase determined at 1.9 A resolution". Biochemistry. 35 (36): 11570–6. doi:10.1021/bi960900l. PMID8794736.
Steinert PM, Marekov LN (1997). "Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope". J. Biol. Chem. 272 (3): 2021–30. doi:10.1074/jbc.272.3.2021. PMID8999895.
Francart C, Dauchez M, Alix AJ, Lippens G (1997). "Solution structure of R-elafin, a specific inhibitor of elastase". J. Mol. Biol. 268 (3): 666–77. doi:10.1006/jmbi.1997.0983. PMID9171290.
Kuijpers AL, Pfundt R, Zeeuwen PL, et al. (1998). "SKALP/elafin gene polymorphisms are not associated with pustular forms of psoriasis". Clin. Genet. 54 (1): 96–101. doi:10.1111/j.1399-0004.1998.tb03703.x. PMID9727750.
Mihaila A, Tremblay GM (2001). "Human alveolar macrophages express elafin and secretory leukocyte protease inhibitor". Z. Naturforsch. C. 56 (3–4): 291–7. PMID11371023.
Simpson AJ, Wallace WA, Marsden ME, et al. (2001). "Adenoviral augmentation of elafin protects the lung against acute injury mediated by activated neutrophils and bacterial infection". J. Immunol. 167 (3): 1778–86. doi:10.4049/jimmunol.167.3.1778. PMID11466403.
Sumi Y, Inoue N, Azumi H, et al. (2002). "Expression of tissue transglutaminase and elafin in human coronary artery: implication for plaque instability". Atherosclerosis. 160 (1): 31–9. doi:10.1016/S0021-9150(01)00542-1. PMID11755920.