LOXL1

Lysyl oxidase homolog 1, also known as LOXL1, is an is_associated_with::enzyme which in humans is encoded by the LOXL1 is_associated_with::gene.

Function
This gene encodes a member of the is_associated_with::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 is_associated_with::collagens and is_associated_with::elastin. A highly conserved amino acid sequence at the is_associated_with::C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The is_associated_with::N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and is_associated_with::chemotaxis to each member of the family.

Clinical significance
Polymorphisms of the LOXL1 gene are associated with is_associated_with::pseudoexfoliation syndrome, a disease where the is_associated_with::extracellular matrix contains abnormal amounts of cross-linked, is_associated_with::amyloid-like fibrillar material and glycoproteins. When this happens in the is_associated_with::eye, is_associated_with::exfoliation glaucoma results.

Interactions
LOXL1 has been shown to interact with is_associated_with::FBLN5.