LOXL1

Lysyl oxidase homolog 1, also known as LOXL1, is an enzyme which in humans is encoded by the LOXL1 gene.^[4][5]

LOXL1
Identifiers
Aliases	LOXL1, LOL, LOXL, lysyl oxidase like 1
External IDs	OMIM: 153456; MGI: 106096; HomoloGene: 4074; GeneCards: LOXL1; OMA:LOXL1 - orthologs
Gene location (Mouse) Chr. Chromosome 9 (mouse)[1] Band 9 B|9 31.65 cM Start 58,195,021 bp[1] End 58,220,469 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in thoracic aorta ascending aorta stromal cell of endometrium right coronary artery urethra left coronary artery saphenous vein retinal pigment epithelium gallbladder anterior pituitary Top expressed in ascending aorta efferent ductule epithelium of lens aortic valve calvaria ankle external carotid artery tunica media of zone of aorta stroma of bone marrow vas deferens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function oxidoreductase activity copper ion binding oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor metal ion binding protein-lysine 6-oxidase activity Cellular component cytoplasm extracellular matrix extracellular region basement membrane acrosomal vesicle extracellular space collagen-containing extracellular matrix Biological process protein deamination aorta development response to lipopolysaccharide extracellular matrix organization peptidyl-lysine oxidation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4016 16949 Ensembl n/a ENSMUSG00000032334 UniProt Q08397 P97873 RefSeq (mRNA) NM_005576 NM_010729 RefSeq (protein) NP_005567 NP_034859 Location (UCSC) n/a Chr 9: 58.2 – 58.22 Mb PubMed search [2] [3]
Wikidata
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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.^[4]

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.^[6][7]

Interactions

LOXL1 has been shown to interact with FBLN5.^[8]

See also

• LOXL2
• LOXL3
• LOXL4