Biology:LOXL1
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Lysyl oxidase homolog 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]
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
References
- ↑ 1.0 1.1 "Entrez Gene: LOXL1 lysyl oxidase-like 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4016.
- ↑ "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. doi:10.1016/S0021-9258(17)46643-9. PMID 7689553. http://www.jbc.org/cgi/reprint/268/25/18435.
- ↑ "Ocular and systemic pseudoexfoliation syndrome". Am. J. Ophthalmol. 141 (5): 921–937. 2006. doi:10.1016/j.ajo.2006.01.047. PMID 16678509.
- ↑ "Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma". Science 317 (5843): 1397–400. 2007. doi:10.1126/science.1146554. PMID 17690259. Bibcode: 2007Sci...317.1397T.
- ↑ "Elastic fiber homeostasis requires lysyl oxidase-like 1 protein". Nat. Genet. (United States) 36 (2): 178–82. Feb 2004. doi:10.1038/ng1297. ISSN 1061-4036. PMID 14745449.
Further reading
- "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. 2001. doi:10.1016/S0079-6603(01)70012-8. ISBN 978-0-12-540070-1. PMID 11642359.
- "Lysyl oxidase: properties, specificity, and biological roles inside and outside of the cell". J. Cell. Biochem. 88 (4): 660–72. 2003. doi:10.1002/jcb.10413. PMID 12577300.
- "Structural and functional diversity of lysyl oxidase and the LOX-like proteins". Biochim. Biophys. Acta 1647 (1–2): 220–4. 2003. doi:10.1016/s1570-9639(03)00053-0. PMID 12686136.
- "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. doi:10.1016/S0021-9258(17)46643-9. PMID 7689553.
- "A new gene with sequence and structural similarity to the gene encoding human lysyl oxidase". J. Biol. Chem. 270 (13): 7176–82. 1995. doi:10.1074/jbc.270.13.7176. PMID 7706256.
- "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. doi:10.1159/000015477. PMID 10773658.
- "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. doi:10.1016/S1046-5928(03)00217-1. PMID 14550642.
- "Elastic fiber homeostasis requires lysyl oxidase-like 1 protein". Nat. Genet. 36 (2): 178–82. 2004. doi:10.1038/ng1297. PMID 14745449.
- "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. doi:10.1111/j.0022-202X.2004.22330.x. PMID 15086544.
- "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. doi:10.1074/jbc.M506832200. PMID 16251195.
- "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. doi:10.1111/j.1600-0625.2006.00442.x. PMID 16842595.
- "Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma". Science 317 (5843): 1397–400. 2007. doi:10.1126/science.1146554. PMID 17690259. Bibcode: 2007Sci...317.1397T.
- "Progress in understanding pseudoexfoliation syndrome and pseudoexfoliation-associated glaucoma". Can. J. Ophthalmol. 42 (5): 657–8. 2007. doi:10.3129/I07-158. PMID 17891191.