LOXL3

Lysyl oxidase-like 3
Identifiers
Symbols	LOXL3 ; LOXL
External IDs	OMIM: 607163 MGI: 1337004 HomoloGene: 56591 GeneCards: LOXL3 Gene
Gene ontology Molecular function • protein-lysine 6-oxidase activity • scavenger receptor activity • copper ion binding • protein binding Cellular component • extracellular region • extracellular space • nucleus • cytoplasm • membrane Biological process • epithelial to mesenchymal transition • receptor-mediated endocytosis • negative regulation of transcription, DNA-templated • oxidation-reduction process Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	84695	16950
Ensembl	ENSG00000115318	ENSMUSG00000000693
UniProt	P58215	Q9Z175
RefSeq (mRNA)	NM_001289164	NM_013586
RefSeq (protein)	NP_001276093	NP_038614
Location (UCSC)	Chr 2: 74.53 – 74.56 Mb	Chr 6: 83.03 – 83.05 Mb
PubMed search	[1]	[2]

Lysyl oxidase homolog 3 is an enzyme that in humans is encoded by the LOXL3 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. Alternatively spliced transcript variants of this gene have been reported but their full-length nature has not been determined.

Clinical significance

An autosomal recessive mutation (missense variant) in the LOXL3 gene is one of the causes of Stickler syndrome, a disease where collagen is not crosslinked properly. Common features are high myopia and cleft palate due to arthropathy (joint pathology) and vitreoretinopathy (pathology of the eye).

See also

• LOXL1
• LOXL2
• LOXL4