| LOXL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | LOXL1 , LOL, LOXL, lysyl oxidase like 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 153456 MGI: 106096 HomoloGene: 4074 GeneCards: LOXL1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Lysyl oxidase homolog 1, also known as LOXL1, is an enzyme which in humans is encoded by the LOXL1 gene. [4] [5]
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]
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]
Elastin is a protein that in humans is encoded by the ELN gene. Elastin is a key component of the extracellular matrix in gnathostomes. It is highly elastic and present in connective tissue allowing many tissues in the body to resume their shape after stretching or contracting. Elastin helps skin to return to its original position when it is poked or pinched. Elastin is also an important load-bearing tissue in the bodies of vertebrates and used in places where mechanical energy is required to be stored.
Elastic fibers are an essential component of the extracellular matrix composed of bundles of proteins (elastin) which are produced by a number of different cell types including fibroblasts, endothelial, smooth muscle, and airway epithelial cells. These fibers are able to stretch many times their length, and snap back to their original length when relaxed without loss of energy. Elastic fibers include elastin, elaunin and oxytalan.
Lysyl oxidase (LOX), also known as protein-lysine 6-oxidase, is an enzyme that, in humans, is encoded by the LOX gene. It catalyzes the conversion of lysine molecules into highly reactive aldehydes that form cross-links in extracellular matrix proteins. Its inhibition can cause osteolathyrism, but, at the same time, its upregulation by tumor cells may promote metastasis of the existing tumor, causing it to become malignant and cancerous.
Collagen alpha-1(V) chain is a protein that in humans is encoded by the COL5A1 gene.
Neutrophil cytosol factor 1, also known as p47phox, is a protein that in humans is encoded by the NCF1 gene.
NADPH oxidase 1 is an enzyme that in humans is encoded by the NOX1 gene.
Rac2 is a small signaling G protein, and is a member of the Rac subfamily of the family Rho family of GTPases. It is encoded by the gene RAC2.
Histone H3.2 is a protein that in humans is encoded by the HIST2H3C gene.
Histone H2B type 1-J is a protein that in humans is encoded by the HIST1H2BJ gene.
Fibulin-5 is a protein that in humans is encoded by the FBLN5 gene.
Histone H1.5 is a protein that in humans is encoded by the HIST1H1B gene.
Discoidin domain-containing receptor 2, also known as CD167b, is a protein that in humans is encoded by the DDR2 gene. Discoidin domain-containing receptor 2 is a receptor tyrosine kinase (RTK).
Lysyl oxidase homolog 2 is an enzyme that in humans is encoded by the LOXL2 gene.
Procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 is an enzyme that in humans is encoded by the PLOD3 gene.
Lysyl oxidase homolog 4 is an enzyme that in humans is encoded by the LOXL4 gene.
Tolloid-like protein 1 is a protein that in humans is encoded by the TLL1 gene.
Tolloid-like protein 2 is a protein that in humans is encoded by the TLL2 gene.
Microfibrillar-associated protein 5 is a protein that in humans is encoded by the MFAP5 gene.
Lysyl oxidase homolog 3 is an enzyme that in humans is encoded by the LOXL3 gene.
Pseudoexfoliation syndrome, often abbreviated as PEX and sometimes as PES or PXS, is an aging-related systemic disease manifesting itself primarily in the eyes which is characterized by the accumulation of microscopic granular amyloid-like protein fibers. Its cause is unknown, although there is speculation that there may be a genetic basis. It is more prevalent in women than men, and in persons past the age of seventy. Its prevalence in different human populations varies; for example, it is prevalent in Scandinavia. The buildup of protein clumps can block normal drainage of the eye fluid called the aqueous humor and can cause, in turn, a buildup of pressure leading to glaucoma and loss of vision. As worldwide populations become older because of shifts in demography, PEX may become a matter of greater concern.
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