Lysyl Oxidase Homolog 1 (LOXL1) Mouse Recombinant Protein

This gene encodes a member of the lysyl oxidase family of copper-dependent enzymes that catalyze the formation of lysine-derived crosslinks in proteins such as collagen and elastin. The encoded preproprotein undergoes proteolytic processing to generate the mature, functional enzyme. Mice lacking the encoded protein fail to deposit normal elastic fibers in the uterine tract post partum and develop pelvic organ prolapse, enlarged airspaces of the lung, loose skin and vascular abnormalities with concomitant tropoelastin accumulation. [provided by RefSeq, Sep 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: Extracellular matrix; Secreted, signal peptide; EC 1.4.3.-; Oxidoreductase; Secreted

Cellular Component: acrosome; basement membrane; cytoplasm; extracellular matrix; extracellular region; proteinaceous extracellular matrix

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