Aliases for LOXL1 Gene
External Ids for LOXL1 Gene
Previous GeneCards Identifiers for LOXL1 Gene
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]
GeneCards Summary for LOXL1 Gene
LOXL1 (Lysyl Oxidase Like 1) is a Protein Coding gene. Diseases associated with LOXL1 include Exfoliation Syndrome and Phacogenic Glaucoma. Among its related pathways are Collagen chain trimerization and SMAD2/3 MH2 Domain Mutants in Cancer. Gene Ontology (GO) annotations related to this gene include copper ion binding and oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor. An important paralog of this gene is LOX.
UniProtKB/Swiss-Prot for LOXL1 Gene
Active on elastin and collagen substrates.