Aliases for LOXL2 Gene
External Ids for LOXL2 Gene
Previous GeneCards Identifiers for LOXL2 Gene
This gene encodes a member of the 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 collagens and elastin. 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. [provided by RefSeq, Jul 2008]
GeneCards Summary for LOXL2 Gene
LOXL2 (Lysyl Oxidase Like 2) is a Protein Coding gene. Diseases associated with LOXL2 include Hyperostosis Cranialis Interna and Craniometaphyseal Dysplasia, Autosomal Dominant. 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 chromatin binding and electron transfer activity. An important paralog of this gene is LOXL3.
UniProtKB/Swiss-Prot for LOXL2 Gene
Mediates the post-translational oxidative deamination of lysine residues on target proteins leading to the formation of deaminated lysine (allysine). When secreted in extracellular matrix, promotes cross-linking of extracellular matrix proteins by mediating oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin. Acts as a regulator of sprouting angiogenesis, probably via collagen IV scaffolding. When nuclear, acts as a transcription corepressor and specifically mediates deamination of trimethylated Lys-4 of histone H3 (H3K4me3), a specific tag for epigenetic transcriptional activation. Involved in epithelial to mesenchymal transition (EMT) via interaction with SNAI1 and participates in repression of E-cadherin, probably by mediating deamination of histone H3. Also involved in E-cadherin repression following hypoxia, a hallmark of epithelial to mesenchymal transition believed to amplify tumor aggressiveness, suggesting that it may play a role in tumor progression. Acts as a regulator of chondrocyte differentiation, probably by regulating expression of factors that control chondrocyte differentiation.