LOXL3 Gene - Lysyl Oxidase Like 3
A key enzyme in extracellular matrix remodeling and connective tissue disorders
Gene Information Card
| Symbol | LOXL3 |
|---|---|
| Full Name | Lysyl Oxidase Like 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 84695 ncbi.nlm.nih.gov/gene/84695 |
| Ensembl ID | ENSG00000115318 |
| UniProt ID | Q9NRD1 |
| OMIM ID | 607163 |
| HGNC ID | 13838 |
| Aliases | LOXL, lysyl oxidase-like 3, LOXL3_HUMAN |
Description
LOXL3 encodes a member of the lysyl oxidase family of copper-dependent amine oxidases. The enzyme catalyzes the oxidative deamination of lysine and hydroxylysine residues in collagen and elastin, initiating crosslinking essential for extracellular matrix stability. LOXL3 is involved in developmental processes, wound healing, and tissue fibrosis. Mutations in LOXL3 are associated with connective tissue disorders and have been implicated in cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ehlers-Danlos syndrome, spondylodysplastic type 3 | Loss-of-function mutations impair collagen crosslinking, leading to connective tissue fragility. | ClinVar, OMIM #607163 |
| Cutis laxa, autosomal recessive type 2C | Defective elastin crosslinking due to LOXL3 deficiency results in loose, sagging skin. | ClinVar, OMIM #607163 |
| Breast cancer | Overexpression of LOXL3 promotes tumor invasion and metastasis via extracellular matrix remodeling. | COSMIC, PubMed studies |
| Pulmonary fibrosis | Increased LOXL3 expression contributes to excessive collagen deposition in lung tissue. | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Medium |
| Placenta | 15.2 | High |
| Skin | 11.4 | Medium |
| Skeletal muscle | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 18.3 | High expression |
| MCF7 (breast cancer) | 22.1 | High expression |
| HepG2 (hepatocellular carcinoma) | 7.5 | Moderate expression |
| HEK293 (embryonic kidney) | 5.2 | Low expression |
| BJ (fibroblast) | 14.6 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1079G>A (p.Arg360Gln) | Missense | Rare | Loss of catalytic activity; associated with Ehlers-Danlos syndrome |
| c.1486C>T (p.Arg496Trp) | Missense | Rare | Impaired copper binding; linked to cutis laxa |
| c.1732_1733del (p.Leu578Alafs*12) | Frameshift | Very rare | Premature truncation; loss of function |
| c.2021A>G (p.Tyr674Cys) | Missense | Rare | Reduced enzyme activity; reported in connective tissue disorders |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce or abolish amine oxidase activity, leading to defective collagen/elastin crosslinking.
Gain of Function (GOF)
Not well documented; overexpression in certain cancers may confer gain-of-function effects via enhanced matrix remodeling.
Dominant Negative (DN)
Not reported for LOXL3; most pathogenic mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005507 - copper ion binding | • GO:0004720 - protein-lysine 6-oxidase activity |
| • GO:0005576 - extracellular region | • GO:0005615 - extracellular space |
| • GO:0007155 - cell adhesion | • GO:0030198 - extracellular matrix organization |
| • GO:0048146 - positive regulation of fibroblast proliferation | • GO:0051213 - dioxygenase activity |
Pathways
• ECM-receptor interaction (KEGG hsa04512)
• Focal adhesion (KEGG hsa04510)
• Lysyl oxidase pathway (Reactome R-HSA-2243919)
• Collagen biosynthesis and modifying enzymes (Reactome R-HSA-1650814)
Protein Summary
LOXL3 is a 753-amino acid protein with a molecular weight of approximately 84 kDa. It contains a signal peptide for secretion, four scavenger receptor cysteine-rich (SRCR) domains, and a C-terminal lysyl oxidase catalytic domain that binds copper and requires the cofactor lysine tyrosylquinone (LTQ). The enzyme is secreted into the extracellular matrix where it oxidizes lysine residues in collagen and elastin, initiating crosslinking that provides tensile strength and structural integrity. LOXL3 is expressed in various tissues, with highest levels in placenta, skin, and lung. Dysregulation of LOXL3 contributes to fibrotic diseases and cancer metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LOXL3 Knockout HEK293 Cell Line | EDJ-KQ10168 | Human | 84695 | Details Get a Quote |
| LOXL3 Knockout HCT 116 Cell Line | EDJ-KQ37277 | Human | 84695 | Details Get a Quote |
| LOXL3 Knockout HeLa Cell Line | EDJ-KQ37278 | Human | 84695 | Details Get a Quote |
| LOXL3 Knockout A-549 Cell Line | EDJ-KQ66149 | Human | 84695 | Details Get a Quote |
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