LOXL1

Lysyl oxidase-like 1
Identifiers
Symbols LOXL1 ; LOL; LOXL
External IDs OMIM: 153456 MGI: 106096 HomoloGene: 4074 GeneCards: LOXL1 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 4016 16949
Ensembl ENSG00000129038 ENSMUSG00000032334
UniProt Q08397 P97873
RefSeq (mRNA) NM_005576 NM_010729
RefSeq (protein) NP_005567 NP_034859
Location (UCSC) Chr 15:
73.93 – 73.95 Mb		 Chr 9:
58.29 – 58.31 Mb
PubMed search

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

References

  1. 1 2 "Entrez Gene: LOXL1 lysyl oxidase-like 1".
  2. ↑ 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.
  3. ↑ Schlötzer-Schrehardt U, Naumann GO (2006). "Ocular and systemic pseudoexfoliation syndrome". Am. J. Ophthalmol. 141 (5): 921–937. doi:10.1016/j.ajo.2006.01.047. PMID 16678509.
  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 (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.
  5. ↑ Liu X, Zhao Y, Gao J, Pawlyk B, Starcher B, Spencer JA, Yanagisawa H, Zuo J, Li T (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, Hayashi K, Kim Y, Fong SF, Fogelgren B, Szauter KM, Mink M, Csiszar K (2003). "Structural and functional diversity of lysyl oxidase and the LOX-like proteins". Biochim. Biophys. Acta 1647 (1–2): 220–4. doi:10.1016/s1570-9639(03)00053-0. 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. 
  • Jung ST, Kim MS, Seo JY, Kim HC, Kim Y (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, Pawlyk B, Starcher B, Spencer JA, Yanagisawa H, Zuo J, Li T (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, Borel A, Gleyzal C, Peyrol S, Jacob MP, Sommer P, Damour O (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. 
  • Thomassin L, Werneck CC, Broekelmann TJ, Gleyzal C, Hornstra IK, Mecham RP, Sommer P (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, Sommer P, Damour O, Perrier E (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, 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 (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. 


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