LOXL1 explained

Lysyl oxidase homolog 1, also known as LOXL1, is an enzyme which in humans is encoded by the LOXL1 gene.^[1]

Function

This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family.^[2]

Clinical significance

Polymorphisms of the LOXL1 gene are associated with pseudoexfoliation syndrome, a disease where the extracellular matrix contains abnormal amounts of cross-linked, amyloid-like fibrillar material and glycoproteins. When this happens in the eye, exfoliation glaucoma results.^{[3] [4]}

Interactions

LOXL1 has been shown to interact with FBLN5.^[5]

See also

• LOXL2
• LOXL3
• LOXL4

Further reading

• Csiszar K . Lysyl oxidases: a novel multifunctional amine oxidase family . Prog. Nucleic Acid Res. Mol. Biol. . 70 . 1–32 . 2001 . 11642359 . 10.1016/S0079-6603(01)70012-8 . 978-0-12-540070-1 . Progress in Nucleic Acid Research and Molecular Biology .
• Kagan HM, Li W . Lysyl oxidase: properties, specificity, and biological roles inside and outside of the cell . J. Cell. Biochem. . 88 . 4 . 660–72 . 2003 . 12577300 . 10.1002/jcb.10413 . 23651213 .
• Molnar J, Fong KS, He QP, Hayashi K, Kim Y, Fong SF, Fogelgren B, Szauter KM, Mink M, Csiszar K . Structural and functional diversity of lysyl oxidase and the LOX-like proteins . Biochim. Biophys. Acta . 1647 . 1–2 . 220–4 . 2003 . 12686136 . 10.1016/s1570-9639(03)00053-0 .
• Kenyon K, Modi WS, Contente S, Friedman RM . A novel human cDNA with a predicted protein similar to lysyl oxidase maps to chromosome 15q24-q25 . J. Biol. Chem. . 268 . 25 . 18435–7 . 1993 . 10.1016/S0021-9258(17)46643-9 . 7689553 . free .
• Kim Y, Boyd CD, Csiszar K . A new gene with sequence and structural similarity to the gene encoding human lysyl oxidase . J. Biol. Chem. . 270 . 13 . 7176–82 . 1995 . 7706256 . 10.1074/jbc.270.13.7176 . free .
• Goy A, Gilles F, Remache Y, Zelenetz AD . Physical linkage of the lysyl oxidase-like (LOXL1) gene to the PML gene on human chromosome 15q22 . Cytogenet. Cell Genet. . 88 . 1–2 . 22–4 . 2000 . 10773658 . 10.1159/000015477 . 41968837 .
• Jung ST, Kim MS, Seo JY, Kim HC, Kim Y . Purification of enzymatically active human lysyl oxidase and lysyl oxidase-like protein from Escherichia coli inclusion bodies . Protein Expr. Purif. . 31 . 2 . 240–6 . 2004 . 14550642 . 10.1016/S1046-5928(03)00217-1 .
• Liu X, Zhao Y, Gao J, Pawlyk B, Starcher B, Spencer JA, Yanagisawa H, Zuo J, Li T . Elastic fiber homeostasis requires lysyl oxidase-like 1 protein . Nat. Genet. . 36 . 2 . 178–82 . 2004 . 14745449 . 10.1038/ng1297 . free .
• Noblesse E, Cenizo V, Bouez C, Borel A, Gleyzal C, Peyrol S, Jacob MP, Sommer P, Damour O . Lysyl oxidase-like and lysyl oxidase are present in the dermis and epidermis of a skin equivalent and in human skin and are associated to elastic fibers . J. Invest. Dermatol. . 122 . 3 . 621–30 . 2004 . 15086544 . 10.1111/j.0022-202X.2004.22330.x . free .
• Thomassin L, Werneck CC, Broekelmann TJ, Gleyzal C, Hornstra IK, Mecham RP, Sommer P . The Pro-regions of lysyl oxidase and lysyl oxidase-like 1 are required for deposition onto elastic fibers . J. Biol. Chem. . 280 . 52 . 42848–55 . 2006 . 16251195 . 10.1074/jbc.M506832200 . free .
• Cenizo V, André V, Reymermier C, Sommer P, Damour O, Perrier E . LOXL as a target to increase the elastin content in adult skin: a dill extract induces the LOXL gene expression . Exp. Dermatol. . 15 . 8 . 574–81 . 2007 . 16842595 . 10.1111/j.1600-0625.2006.00442.x . 10622527 .
• Thorleifsson G, Magnusson KP, Sulem P, Walters GB, Gudbjartsson DF, Stefansson H, Jonsson T, Jonasdottir A, Jonasdottir A, Stefansdottir G, Masson G, Hardarson GA, Petursson H, Arnarsson A, Motallebipour M, Wallerman O, Wadelius C, Gulcher JR, Thorsteinsdottir U, Kong A, Jonasson F, Stefansson K . Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma . Science . 317 . 5843 . 1397–400 . 2007 . 17690259 . 10.1126/science.1146554 . 2007Sci...317.1397T . 22289307 . free .
• Damji KF . Progress in understanding pseudoexfoliation syndrome and pseudoexfoliation-associated glaucoma . Can. J. Ophthalmol. . 42 . 5 . 657–8 . 2007 . 17891191 . 10.3129/I07-158 .

Notes and References

1. Kenyon K, Modi WS, Contente S, Friedman RM . A novel human cDNA with a predicted protein similar to lysyl oxidase maps to chromosome 15q24-q25 . The Journal of Biological Chemistry . 268 . 25 . 18435–7 . September 1993 . 10.1016/S0021-9258(17)46643-9 . 7689553 . free .
2. Web site: Entrez Gene: LOXL1 lysyl oxidase-like 1.
3. Schlötzer-Schrehardt U, Naumann GO . Ocular and systemic pseudoexfoliation syndrome . Am. J. Ophthalmol. . 141 . 5 . 921–937 . 2006 . 16678509 . 10.1016/j.ajo.2006.01.047 .
4. Thorleifsson G, Magnusson KP, Sulem P, Walters GB, Gudbjartsson DF, Stefansson H, Jonsson T, Jonasdottir A, Jonasdottir A, Stefansdottir G, Masson G, Hardarson GA, Petursson H, Arnarsson A, Motallebipour M, Wallerman O, Wadelius C, Gulcher JR, Thorsteinsdottir U, Kong A, Jonasson F, Stefansson K . Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma . Science . 317 . 5843 . 1397–400 . 2007 . 17690259 . 10.1126/science.1146554 . 2007Sci...317.1397T . 22289307 . free .
5. Liu X, Zhao Y, Gao J, Pawlyk B, Starcher B, Spencer JA, Yanagisawa H, Zuo J, Li T . Elastic fiber homeostasis requires lysyl oxidase-like 1 protein . Nat. Genet. . 36 . 2 . 178–82 . Feb 2004 . 14745449 . 10.1038/ng1297 . United States . 1061-4036 . free .