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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LOX
lysyl oxidase
Chromosome 5 Β· 5q23.1
NCBI Gene: 4015Ensembl: ENSG00000113083.15HGNC: HGNC:6664UniProt: B0AZT2
254PubMed Papers
21Diseases
0Drugs
54Pathogenic Variants
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
peptidyl-lysine oxidationGO:0005615protein bindingcollagen bindingfamilial thoracic aortic aneurysm and aortic dissectionaortic aneurysmAbnormality of the cardiovascular systemAortic dissection
✦AI Summary

Lysyl oxidase (LOX) is a copper-dependent extracellular enzyme responsible for post-translational oxidative deamination of peptidyl lysine residues in collagen and elastin precursors 1, catalyzing cross-linking of structural extracellular matrix (ECM) components essential for tissue integrity 2. Beyond its canonical ECM cross-linking role, LOX mediates ECM mechanical stiffness that activates the mechanosensitive Piezo1 ion channel, triggering ferroptotic neuronal death in hypoxic-ischemic brain damage 3. LOX contributes to multiple pathological processes: it promotes chemoresistance in triple-negative breast cancer by facilitating collagen cross-linking and fibronectin assembly, thereby reducing drug penetration and activating FAK/Src signaling 4, and enhances chondrosarcoma metastasis through miR-26b-5p suppression 5. LOX expression is elevated during fibrosis progression across cardiac, renal, pulmonary, and liver tissues, and LOX inhibition has shown promise in preclinical fibrosis models 2. Disease associations include familial thoracic aortic aneurysm. Therapeutically, LOX inhibition represents a target for fibrosis reversal, chemoresistance overcome, and neuroprotection, with traumatic acid identified as a novel LOX inhibitor 3.

Sources cited
1
LOX catalyzes post-translational oxidative deamination of peptidyl lysine residues in collagen and elastin precursors
PMID: 26838787
2
LOX family members are extracellular copper-dependent enzymes that cross-link ECM components and play roles in fibrosis progression; inhibition suppresses fibrosis in rodent models
PMID: 32176358
3
LOX-mediated ECM remodeling increases tissue stiffness and activates Piezo1, inducing ferroptosis in hypoxic-ischemic brain damage; LOX inhibition ameliorates neuronal ferroptosis
PMID: 39260063
4
LOX promotes chemoresistance in triple-negative breast cancer by facilitating collagen cross-linking and fibronectin assembly; LOX inhibition increases drug penetration and re-sensitizes to chemotherapy
PMID: 32415208
5
NAMPT enhances LOX expression and promotes chondrosarcoma metastasis; LOX knockdown counteracts NAMPT-facilitated metastasis
PMID: 38940190
Disease Associationsβ“˜21
familial thoracic aortic aneurysm and aortic dissectionOpen Targets
0.81Strong
aortic aneurysmOpen Targets
0.61Moderate
Abnormality of the cardiovascular systemOpen Targets
0.53Moderate
Aortic dissectionOpen Targets
0.50Moderate
marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissectionsOpen Targets
0.50Moderate
Inguinal herniaOpen Targets
0.49Moderate
skin agingOpen Targets
0.41Moderate
keratoconusOpen Targets
0.35Weak
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.34Weak
coronary artery diseaseOpen Targets
0.33Weak
HerniaOpen Targets
0.33Weak
Rare disease with thoracic aortic aneurysm and aortic dissectionOpen Targets
0.30Weak
cutis laxaOpen Targets
0.27Weak
cardiomyopathyOpen Targets
0.27Weak
Generalized arterial tortuosityOpen Targets
0.27Weak
liver diseaseOpen Targets
0.25Weak
emphysemaOpen Targets
0.12Weak
connective tissue diseaseOpen Targets
0.12Weak
neoplasmOpen Targets
0.12Weak
genetic disorderOpen Targets
0.12Weak
Aortic aneurysm, familial thoracic 10UniProt
Pathogenic Variants54
NM_002317.7(LOX):c.732_735del (p.Cys244fs)Pathogenic
not provided|Cardiovascular phenotype|LOX-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 244
NM_002317.7(LOX):c.604G>T (p.Gly202Ter)Pathogenic
Congenital aneurysm of ascending aorta;Acute aortic dissection|Cardiovascular phenotype|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 202
NM_002317.7(LOX):c.1035+1G>APathogenic
not provided|Aortic aneurysm, familial thoracic 10
β˜…β˜…β˜†β˜†2025
NM_002317.7(LOX):c.841C>T (p.Arg281Ter)Pathogenic
Cardiovascular phenotype|not provided|Cardiomyopathy
β˜…β˜…β˜†β˜†2025β†’ Residue 281
NM_002317.7(LOX):c.1131+1_1131+6delPathogenic
not provided
β˜…β˜…β˜†β˜†2025
NM_002317.7(LOX):c.37_38del (p.Leu13fs)Pathogenic
Cardiovascular phenotype|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 13
NM_002317.7(LOX):c.372G>A (p.Trp124Ter)Pathogenic
Familial aortopathy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 124
NM_002317.7(LOX):c.841del (p.Arg281fs)Pathogenic
Cardiovascular phenotype|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 281
NM_002317.7(LOX):c.210_226dup (p.Val76fs)Pathogenic
Cardiovascular phenotype|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 76
NM_002317.7(LOX):c.389C>A (p.Ser130Ter)Pathogenic
Aortic aneurysm, familial thoracic 10|Familial thoracic aortic aneurysm and aortic dissection
β˜…β˜…β˜†β˜†2024β†’ Residue 130
NM_002317.7(LOX):c.1222dup (p.Tyr408fs)Likely pathogenic
not provided|Aortic aneurysm, familial thoracic 10
β˜…β˜…β˜†β˜†2024β†’ Residue 408
NM_002317.7(LOX):c.681C>G (p.Tyr227Ter)Pathogenic
Aortic aneurysm, familial thoracic 10|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 227
NM_002317.7(LOX):c.351del (p.Arg118fs)Pathogenic
Aortic aneurysm, familial thoracic 10
β˜…β˜…β˜†β˜†2024β†’ Residue 118
NM_002317.7(LOX):c.1009C>T (p.Arg337Ter)Pathogenic
Aortic aneurysm, familial thoracic 10|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 337
NM_002317.7(LOX):c.625del (p.Gln209fs)Pathogenic
not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2022β†’ Residue 209
NM_002317.7(LOX):c.545del (p.Pro182fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 182
NM_002317.7(LOX):c.893T>G (p.Met298Arg)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 10
β˜…β˜…β˜†β˜†2021β†’ Residue 298
NM_002317.7(LOX):c.262del (p.Arg88fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 88
NM_002317.7(LOX):c.741-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_002317.7(LOX):c.157C>T (p.Gln53Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 53
View on ClinVar β†—
Related Genes
THBS1Protein interaction99%PLOD2Protein interaction98%FBLN5Protein interaction97%EFEMP2Protein interaction95%ADAMTS2Protein interaction94%MFAP2Protein interaction88%
Tissue Expression6 tissues
Lung
100%
Heart
68%
Ovary
40%
Brain
14%
Liver
8%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
LOXTHBS1PLOD2FBLN5EFEMP2ADAMTS2MFAP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P28300
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.50Moderately Constrained
pLIβ“˜
0.98Intolerant
Observed/Expected LoF0.30 [0.18–0.50]
RankingsWhere LOX stands among ~20K protein-coding genes
  • #1,515of 20,598
    Most Researched254 Β· top 10%
  • #1,256of 5,498
    Most Pathogenic Variants54 Β· top quartile
  • #3,031of 17,882
    Most Constrained (LOEUF)0.50 Β· top quartile
Genes detectedLOX
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Emerging role of 12/15-Lipoxygenase (ALOX15) in human pathologies.
PMID: 30472260
Prog Lipid Res Β· 2019
1.00
2
Lysyl Oxidase (LOX) Family Members: Rationale and Their Potential as Therapeutic Targets for Liver Fibrosis.
PMID: 32176358
Hepatology Β· 2020
0.90
3
LOX-mediated ECM mechanical stress induces Piezo1 activation in hypoxic-ischemic brain damage and identification of novel inhibitor of LOX.
PMID: 39260063
Redox Biol Β· 2024
0.80
4
Lysyl Oxidases: Functions and Disorders.
PMID: 29419646
J Glaucoma Β· 2018
0.76
5
A potent and selective inhibitor targeting human and murine 12/15-LOX.
PMID: 26899595
Bioorg Med Chem Β· 2016
0.72