Aliases for LOXL3 Gene
External Ids for LOXL3 Gene
Previous GeneCards Identifiers for LOXL3 Gene
This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016]
GeneCards Summary for LOXL3 Gene
LOXL3 (Lysyl Oxidase Like 3) is a Protein Coding gene. Diseases associated with LOXL3 include Irregular Astigmatism and Stickler Syndrome. Among its related pathways are Elastic fibre formation and Collagen biosynthesis and modifying enzymes. 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 LOXL2.
UniProtKB/Swiss-Prot for LOXL3 Gene
Both isoforms function as amine oxidases toward elastin and different types of collagens. Isoform 1 shows the highest activity toward collagen type VIII, while Isoform 2 presents the highest activity toward collagen type IV.