Lysyl oxidase homolog 1, also known as LOXL1, is an enzyme which in humans is encoded by the LOXL1 gene.[4][5]
LOXL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | LOXL1, LOL, LOXL, lysyl oxidase like 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 153456 MGI: 106096 HomoloGene: 4074 GeneCards: LOXL1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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]