LOXL1
Lysyl oxidase-like 1, also known as LOXL1, is an enzyme which in humans is encoded by the LOXL1 gene.[1][2]
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.[1]
Polymorphisms of the gene are associated with the pseudoexfoliation syndrome.
Interactions
LOXL1 has been shown to interact with FBLN5.[3]
See also
References
- ^ a b "Entrez Gene: LOXL1 lysyl oxidase-like 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4016.
- ^ Kenyon K, Modi WS, Contente S, Friedman RM (September 1993). "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. PMID 7689553. http://www.jbc.org/cgi/reprint/268/25/18435.
- ^ Liu, Xiaoqing; Zhao Yun, Gao Jiangang, Pawlyk Basil, Starcher Barry, Spencer Jeffrey A, Yanagisawa Hiromi, Zuo Jian, Li Tiansen (Feb. 2004). "Elastic fiber homeostasis requires lysyl oxidase-like 1 protein". Nat. Genet. (United States) 36 (2): 178–82. doi:10.1038/ng1297. ISSN 1061-4036. PMID 14745449.
Further reading
- Csiszar K (2001). "Lysyl oxidases: a novel multifunctional amine oxidase family". Prog. Nucleic Acid Res. Mol. Biol.. Progress in Nucleic Acid Research and Molecular Biology 70: 1–32. doi:10.1016/S0079-6603(01)70012-8. ISBN 978-0-12-540070-1. PMID 11642359.
- Kagan HM, Li W (2003). "Lysyl oxidase: properties, specificity, and biological roles inside and outside of the cell". J. Cell. Biochem. 88 (4): 660–72. doi:10.1002/jcb.10413. PMID 12577300.
- Molnar J, Fong KS, He QP, et al. (2003). "Structural and functional diversity of lysyl oxidase and the LOX-like proteins". Biochim. Biophys. Acta 1647 (1–2): 220–4. PMID 12686136.
- Kenyon K, Modi WS, Contente S, Friedman RM (1993). "A novel human cDNA with a predicted protein similar to lysyl oxidase maps to chromosome 15q24-q25". J. Biol. Chem. 268 (25): 18435–7. PMID 7689553.
- Kim Y, Boyd CD, Csiszar K (1995). "A new gene with sequence and structural similarity to the gene encoding human lysyl oxidase". J. Biol. Chem. 270 (13): 7176–82. doi:10.1074/jbc.270.13.7176. PMID 7706256.
- Goy A, Gilles F, Remache Y, Zelenetz AD (2000). "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. doi:10.1159/000015477. PMID 10773658.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Jung ST, Kim MS, Seo JY, et al. (2004). "Purification of enzymatically active human lysyl oxidase and lysyl oxidase-like protein from Escherichia coli inclusion bodies". Protein Expr. Purif. 31 (2): 240–6. doi:10.1016/S1046-5928(03)00217-1. PMID 14550642.
- Liu X, Zhao Y, Gao J, et al. (2004). "Elastic fiber homeostasis requires lysyl oxidase-like 1 protein". Nat. Genet. 36 (2): 178–82. doi:10.1038/ng1297. PMID 14745449.
- Noblesse E, Cenizo V, Bouez C, et al. (2004). "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. doi:10.1111/j.0022-202X.2004.22330.x. PMID 15086544.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Thomassin L, Werneck CC, Broekelmann TJ, et al. (2006). "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. doi:10.1074/jbc.M506832200. PMID 16251195.
- Cenizo V, André V, Reymermier C, et al. (2007). "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. doi:10.1111/j.1600-0625.2006.00442.x. PMID 16842595.
- Thorleifsson G, Magnusson KP, Sulem P, et al. (2007). "Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma". Science 317 (5843): 1397–400. doi:10.1126/science.1146554. PMID 17690259.
- Damji KF (2007). "Progress in understanding pseudoexfoliation syndrome and pseudoexfoliation-associated glaucoma". Can. J. Ophthalmol. 42 (5): 657–8. doi:10.3129/I07-158. PMID 17891191.