LOX Chromosome 5
Lysyl oxidase
Upload your DNA to see your personal genotypes for variants in LOX.
What This Gene Does
This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections. [provided by RefSeq, Jul 2016]
Associated Conditions (16)
Cardiovascular phenotype
Aortic aneurysm
familial thoracic 10
Familial thoracic aortic aneurysm and aortic dissection
Congenital aneurysm of ascending aorta
Acute aortic dissection
LOX-related disorder
Abnormal facial shape
Increased number of skin folds
Emphysema
Pleural effusion
Interphalangeal joint contracture of finger
Connective tissue disorder
Generalized arterial tortuosity
Cutis laxa
Cardiomyopathy
Key Variants
RS1176843691
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1336143561
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 10, Cardiovascular phenotype
Health Risk
RS139035462
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype
Health Risk
RS1407044026
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS1561417568
Conflicting classifications of pathogenicity
Congenital aneurysm of ascending aorta, Acute aortic dissection, Cardiovascular phenotype
Health Risk
RS2152589500
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 10, Cardiovascular phenotype
Health Risk
RS2152591662
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS2532901248
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 10, Aortic aneurysm
Health Risk
RS369178929
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS370627614
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Aortic aneurysm, familial thoracic 10
Health Risk
RS370861938
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 10, Cardiovascular phenotype
Health Risk
RS547011629
Conflicting classifications of pathogenicity
LOX-related disorder, LOX-related disorder
Health Risk
All Variants (74)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1176843691 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1336143561 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 10, Cardiovascular phenotype |
| RS139035462 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype |
| RS1407044026 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1561417568 | Health Risk | Conflicting classifications of pathogenicity | Congenital aneurysm of ascending aorta, Acute aortic dissection, Cardiovascular phenotype |
| RS2152589500 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 10, Cardiovascular phenotype |
| RS2152591662 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2532901248 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 10, Aortic aneurysm |
| RS369178929 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS370627614 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Aortic aneurysm, familial thoracic 10 |
| RS370861938 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 10, Cardiovascular phenotype |
| RS547011629 | Health Risk | Conflicting classifications of pathogenicity | LOX-related disorder, LOX-related disorder |
| RS572413728 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS575026013 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS575190694 | Health Risk | Conflicting classifications of pathogenicity | Abnormal facial shape, Increased number of skin folds, Emphysema |
| RS577482351 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype |
| RS745734653 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS749364042 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Aortic aneurysm, familial thoracic 10 |
| RS749796906 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Aortic aneurysm, familial thoracic 10 |
| RS750748531 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS752839330 | Health Risk | Conflicting classifications of pathogenicity | Congenital aneurysm of ascending aorta, Acute aortic dissection, Cardiovascular phenotype |
| RS757946184 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS761581335 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS764007081 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS765126342 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Cardiovascular phenotype, Connective tissue disorder |
| RS765652942 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 10, Aortic aneurysm |
| RS766220173 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS767855588 | Health Risk | Conflicting classifications of pathogenicity | Acute aortic dissection, Congenital aneurysm of ascending aorta, Cardiovascular phenotype |
| RS772082708 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS774406736 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS775070523 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS780762236 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1436353084 | Health Risk | Likely pathogenic | Generalized arterial tortuosity, Cutis laxa, Generalized arterial tortuosity |
| RS1754540175 | Health Risk | Likely pathogenic | — |
| RS1754653752 | Health Risk | Likely pathogenic | — |
| RS2532908171 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 10, Aortic aneurysm |
| RS2532911725 | Health Risk | Likely pathogenic | — |
| RS2532914762 | Health Risk | Likely pathogenic | — |
| RS2532917277 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2532918070 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 10, Aortic aneurysm |
| RS2532918093 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS754162352 | Health Risk | Likely pathogenic | — |
| RS886040966 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 10, Acute aortic dissection |
| RS1387507346 | Health Risk | Pathogenic | — |
| RS1459778601 | Health Risk | Pathogenic | — |
| RS1754591002 | Health Risk | Pathogenic | — |
| RS2152591749 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 10, Aortic aneurysm |
| RS2532911338 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2532911608 | Health Risk | Pathogenic | — |
| RS2532914813 | Health Risk | Pathogenic | — |