# LOXL3 > Mediated Wiki article. Canonical URL: https://mediated.wiki/source/LOXL3 > Markdown URL: https://mediated.wiki/source/LOXL3.md > Source: https://en.wikipedia.org/wiki/LOXL3 > Source revision: 1300573429 > License: Creative Commons Attribution-ShareAlike 4.0 International (https://creativecommons.org/licenses/by-sa/4.0/) {{Short description|Protein-coding gene in the species Homo sapiens}} {{Infobox_gene}} '''Lysyl oxidase homolog 3''' is an [enzyme](/source/enzyme) that in humans is encoded by the ''LOXL3'' [gene](/source/gene).{{cite journal |vauthors=Jourdan-Le Saux C, Tomsche A, Ujfalusi A, Jia L, Csiszar K | title = Central nervous system, uterus, heart, and leukocyte expression of the LOXL3 gene, encoding a novel lysyl oxidase-like protein | journal = Genomics | volume = 74 | issue = 2 | pages = 211–8 |date=Jun 2001 | pmid = 11386757 | doi = 10.1006/geno.2001.6545 | hdl = 2437/93840 | hdl-access = free }}{{cite web | title = Entrez Gene: LOXL3 lysyl oxidase-like 3| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=84695}} 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](/source/N-terminus) is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and [chemotaxis](/source/chemotaxis) to each member of the family. Alternatively spliced transcript variants of this gene have been reported but their full-length nature has not been determined. == Clinical significance == An autosomal recessive mutation ([missense variant](/source/missense_mutation)) in the LOXL3 gene is one of the causes of [Stickler syndrome](/source/Stickler_syndrome), a disease where [collagen](/source/collagen) is not crosslinked properly. Common features are high [myopia](/source/myopia) and [cleft palate](/source/cleft_palate) due to [arthropathy](/source/arthropathy) ([joint](/source/joint) pathology) and [vitreoretinopathy](/source/vitreoretinopathy_(disambiguation)) (pathology of the [eye](/source/eye)).{{cite journal | vauthors = Alzahrani F, Al Hazzaa SA, Tayeb H, Alkuraya FS | title = LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome | journal = Hum. Genet. | volume = 134 | issue = 4 | pages = 451–3 | year = 2015 | pmid = 25663169 | doi = 10.1007/s00439-015-1531-z | s2cid = 9869276 }} == See also == * [LOXL1](/source/LOXL1) * [LOXL2](/source/LOXL2) * [LOXL4](/source/LOXL4) == References == {{reflist |2}} ==Further reading== {{refbegin | 2}} *{{cite journal | author=Molnar J |title=Structural and functional diversity of lysyl oxidase and the LOX-like proteins |journal=Biochim. Biophys. Acta |volume=1647 |issue= 1–2 |pages= 220–4 |year= 2003 |pmid= 12686136 |doi= 10.1016/s1570-9639(03)00053-0|name-list-style=vanc| author2=Fong KS | author3=He QP | display-authors=3 | last4=Hayashi | first4=K | last5=Kim | first5=Y | last6=Fong | first6=SF | last7=Fogelgren | first7=B | last8=Szauter | first8=KM | last9=Mink | first9=M }} *{{cite journal | author=Csiszar K |title=Lysyl oxidases: a novel multifunctional amine oxidase family |journal=Prog. Nucleic Acid Res. Mol. Biol. |volume=70 |pages= 1–32 |year= 2001 |pmid= 11642359 |doi=10.1016/S0079-6603(01)70012-8 | series=Progress in Nucleic Acid Research and Molecular Biology | isbn=978-0-12-540070-1 }} *{{cite journal | author=Akagawa H |title=Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms |journal=Hum. Genet. |volume=121 |issue= 3–4 |pages= 377–87 |year= 2007 |pmid= 17287949 |doi= 10.1007/s00439-007-0333-3 |name-list-style=vanc| author2=Narita A | author3=Yamada H | display-authors=3 | last4=Tajima | first4=Atsushi | last5=Krischek | first5=Boris | last6=Kasuya | first6=Hidetoshi | last7=Hori | first7=Tomokatsu | last8=Kubota | first8=Motoo | last9=Saeki | first9=Naokatsu |s2cid=25771968 }} *{{cite journal |vauthors=Lee JE, Kim Y |title=A tissue-specific variant of the human lysyl oxidase-like protein 3 (LOXL3) functions as an amine oxidase with substrate specificity |journal=J. Biol. Chem. |volume=281 |issue= 49 |pages= 37282–90 |year= 2007 |pmid= 17018530 |doi= 10.1074/jbc.M600977200 |doi-access= free }} *{{cite journal | author=Peinado H |title=A molecular role for lysyl oxidase-like 2 enzyme in Snail regulation and tumor progression |journal=EMBO J. |volume=24 |issue= 19 |pages= 3446–58 |year= 2006 |pmid= 16096638 |doi= 10.1038/sj.emboj.7600781 | pmc=1276164 |name-list-style=vanc| author2=Del Carmen Iglesias-de la Cruz M | author3=Olmeda D | display-authors=3 | last4=Csiszar | first4=Katalin | last5=Fong | first5=Keith S K | last6=Vega | first6=Sonia | last7=Nieto | first7=Maria Angela | last8=Cano | first8=Amparo | last9=Portillo | first9=Francisco }} *{{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-style=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD |bibcode=2002PNAS...9916899M |doi-access=free }} *{{cite journal | author=Huang Y |title=Cloning and characterization of a human lysyl oxidase-like 3 gene (hLOXL3) |journal=Matrix Biol. |volume=20 |issue= 2 |pages= 153–7 |year= 2001 |pmid= 11334717 |doi=10.1016/S0945-053X(01)00124-X |name-list-style=vanc| author2=Dai J | author3=Tang R | display-authors=3 | last4=Zhao | first4=W | last5=Zhou | first5=Z | last6=Wang | first6=W | last7=Ying | first7=K | last8=Xie | first8=Y | last9=Mao | first9=Y }} *{{cite journal |vauthors=Mäki JM, Kivirikko KI |title=Cloning and characterization of a fourth human lysyl oxidase isoenzyme |journal=Biochem. J. |volume=355 |issue= Pt 2 |pages= 381–7 |year= 2001 |pmid= 11284725 |doi=10.1042/0264-6021:3550381 | pmc=1221749 }} {{refend}} Category:Lysyl oxidases {{gene-2-stub}} --- Adapted from the Wikipedia article [LOXL3](https://en.wikipedia.org/wiki/LOXL3) by Wikipedia contributors ([contributor history](https://en.wikipedia.org/wiki/LOXL3?action=history)). Available under [Creative Commons Attribution-ShareAlike 4.0 International](https://creativecommons.org/licenses/by-sa/4.0/). Changes may have been made.