LOXL3 Knowpia

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)
End	74,555,690 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	83,029,543 bp
RNA expression pattern
	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
	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
	84695
	16950
	ENSG00000115318
	ENSMUSG00000000693
	P58215
	Q9Z175
	NM_001289164; NM_001289165; NM_032603
	NM_013586
	NP_001276093; NP_001276094; NP_115992
	NP_038614
	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 edit

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]

References edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000115318 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000000693 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: LOXL3 lysyl oxidase-like 3".
^ 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 edit

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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000115318 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid11386757-5] 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.

[entrez-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.

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Summary

Clinical significance edit

See also edit

References edit

Further reading edit