LOXL1 is 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. LOXL1 is active on elastin and collagen substrates.
Genetic variations in LOXL1 are associated with risk of developing exfoliation syndrome (XFS) [MIM:177650]; also called exfoliation glaucoma (XFG). Exfoliation syndrome (XFS) is characterized by accumulation of abnormal microfibrillar deposits that line the aqueous bathed surfaces of the anterior segment of the eye. The prevalence of XFS increases with age, and a number of studies have pointed to a geographical clustering of XFS, although this condition is found worldwide; reported prevalence rates average about 10 to 20% of the general population over age 60.
Secreted, extracellular space.
SDS-PAGE - Human LOXL1 protein fragment (ab172190)
SDS-PAGE analysis of ab172190.
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