LOXL1

This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Active on elastin and collagen substrates.

Full Name

lysyl oxidase like 1

Function

Active on elastin and collagen substrates.

Biological Process

Aorta developmentIEA:Ensembl
Collagen fibril organizationManual Assertion Based On ExperimentIBA:GO_Central
Peptidyl-lysine oxidationManual Assertion Based On ExperimentIBA:GO_Central
Protein deaminationManual Assertion Based On ExperimentTAS:UniProtKB
Response to lipopolysaccharideIEA:Ensembl

Cellular Location

Secreted, extracellular space

Involvement in disease

Exfoliation syndrome (XFS):
A disorder characterized by accumulation of abnormal fibrillar deposits in the anterior segment of the eye. In addition to being a cause of glaucoma and glaucomatous optic neuropathy, exfoliation syndrome has also been associated with lens zonule weakness, cataract formation, and systemic vascular complications due to deposition of exfoliation material in extraocular tissues.

PTM

The lysine tyrosylquinone cross-link (LTQ) is generated by condensation of the epsilon-amino group of a lysine with a topaquinone produced by oxidation of tyrosine.