Lysyl Oxidase Like Protein 1 (LOXL1) Antibody – Rabbit Polyclonal

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. 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. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016]

LOXL1: Active on elastin and collagen substrates. Genetic variations in LOXL1 are a cause of susceptibility to exfoliation syndrome (XFS); also called exfoliation glaucoma (XFG). XFS is 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. Susceptibility to exfoliation syndrome is conferred by a risk haplotype that includes two LOXL1 coding non-synonymous SNPs (Arg141Leu and Gly153Asp) and one intronic SNP. Arg141Leu and Gly153Asp are sufficient to confer disease susceptibility in some populations. Belongs to the lysyl oxidase family.

Protein type: EC 1.4.3.-; Extracellular matrix; Oxidoreductase; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 15q24.1

Cellular Component: acrosomal vesicle; basement membrane; extracellular matrix; extracellular region; extracellular space

Molecular Function: copper ion binding; oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor

Biological Process: extracellular matrix organization; protein deamination; response to lipopolysaccharide

Disease: Exfoliation Syndrome