LOXL3

LOXL3
Identifiers
Aliases	LOXL3 , LOXL, lysyl oxidase like 3, MYP28
External IDs	OMIM: 607163 MGI: 1337004 HomoloGene: 56591 GeneCards: LOXL3
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2p13.1 Start 74,532,258 bp [1] End 74,555,690 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6 C3|6 35.94 cM Start 83,011,154 bp [2] End 83,029,543 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia monocyte ascending aorta stromal cell of endometrium right coronary artery ganglionic eminence left coronary artery spongy bone spleen smooth muscle tissue Top expressed in occiput occipital bone axial skeleton lateral part of occipital bone vertebral column rib metatarsal bones lesser wing of sphenoid bone first metacarpal bone uterus More reference expression data BioGPS n/a
Gene ontology Molecular function scavenger receptor activity oxidoreductase activity copper ion binding protein binding oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor metal ion binding fibronectin binding protein-lysine 6-oxidase activity Cellular component extracellular region membrane extracellular space nucleus cytoplasm Biological process negative regulation of transcription, DNA-templated receptor-mediated endocytosis epithelial to mesenchymal transition inflammatory response peptidyl-lysine oxidation spinal cord development lung development roof of mouth development somite development fibronectin fibril organization negative regulation of T-helper 17 cell lineage commitment positive regulation of integrin-mediated signaling pathway collagen fibril organization vesicle-mediated transport endocytosis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84695 16950 Ensembl ENSG00000115318 ENSMUSG00000000693 UniProt P58215 Q9Z175 RefSeq (mRNA) NM_001289164 NM_001289165 NM_032603 NM_013586 RefSeq (protein) NP_001276093 NP_001276094 NP_115992 NP_038614 Location (UCSC) Chr 2: 74.53 – 74.56 Mb Chr 6: 83.01 – 83.03 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Lysyl oxidase homolog 3 is an enzyme that in humans is encoded by the LOXL3 gene. ^{[5] [6]}

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. Alternatively spliced transcript variants of this gene have been reported but their full-length nature has not been determined. ^[6]

Clinical significance

An autosomal recessive mutation (missense variant) in the LOXL3 gene is one of the causes of Stickler syndrome, a disease where collagen is not crosslinked properly. Common features are high myopia and cleft palate due to arthropathy (joint pathology) and vitreoretinopathy (pathology of the eye). ^[7]

See also

• LOXL1
• LOXL2
• LOXL4

References

1. GRCh38: Ensembl release 89: ENSG00000115318 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000000693 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Jourdan-Le Saux C, Tomsche A, Ujfalusi A, Jia L, Csiszar K (Jun 2001). "Central nervous system, uterus, heart, and leukocyte expression of the LOXL3 gene, encoding a novel lysyl oxidase-like protein". Genomics. 74 (2): 211–8. doi:10.1006/geno.2001.6545. PMID   11386757.
6. "Entrez Gene: LOXL3 lysyl oxidase-like 3".
7. Alzahrani F, Al Hazzaa SA, Tayeb H, Alkuraya FS (2015). "LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome". Hum. Genet. 134 (4): 451–3. doi:10.1007/s00439-015-1531-z. PMID   25663169. S2CID   9869276.

Further reading

• 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. doi:10.1016/s1570-9639(03)00053-0. PMID   12686136.
• 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.
• Akagawa H, Narita A, Yamada H, et al. (2007). "Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms". Hum. Genet. 121 (3–4): 377–87. doi:10.1007/s00439-007-0333-3. PMID   17287949. S2CID   25771968.
• Lee JE, Kim Y (2007). "A tissue-specific variant of the human lysyl oxidase-like protein 3 (LOXL3) functions as an amine oxidase with substrate specificity". J. Biol. Chem. 281 (49): 37282–90. doi: 10.1074/jbc.M600977200 . PMID   17018530.
• Peinado H, Del Carmen Iglesias-de la Cruz M, Olmeda D, et al. (2006). "A molecular role for lysyl oxidase-like 2 enzyme in Snail regulation and tumor progression". EMBO J. 24 (19): 3446–58. doi:10.1038/sj.emboj.7600781. PMC   1276164 . PMID   16096638.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Huang Y, Dai J, Tang R, et al. (2001). "Cloning and characterization of a human lysyl oxidase-like 3 gene (hLOXL3)". Matrix Biol. 20 (2): 153–7. doi:10.1016/S0945-053X(01)00124-X. PMID   11334717.
• Mäki JM, Kivirikko KI (2001). "Cloning and characterization of a fourth human lysyl oxidase isoenzyme". Biochem. J. 355 (Pt 2): 381–7. doi:10.1042/0264-6021:3550381. PMC   1221749 . PMID   11284725.