PLOD1 Chromosome 1
Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
Upload your DNA to see your personal genotypes for variants in PLOD1.
What This Gene Does
Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
Procollagen-lysine,2-oxoglutarate 5-dioxygenase family
Locus Type
gene with protein product
Location
1p36.22
Ensembl
ENSG00000083444
Associated Conditions (11)
Ehlers-Danlos syndrome
kyphoscoliotic type 1
Familial thoracic aortic aneurysm and aortic dissection
PLOD1-related disorder
Cardiovascular phenotype
Keratoconus
Thyroid cancer
nonmedullary
1
6 conditions
8 conditions
Key Variants
RS1032781250
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS112250644
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS11553676
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1176136454
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1264171984
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome
Health Risk
RS1273287120
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1310692062
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome
Health Risk
RS138490756
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1391173198
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection, kyphoscoliotic type 1
Health Risk
RS139869965
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS140159343
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS140513387
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
All Variants (150)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057518879 | Health Risk | Pathogenic | 6 conditions, 8 conditions, 6 conditions |
| RS1189324317 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS121913550 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS121913552 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS121913553 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS1224538282 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS143294623 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS1433428588 | Health Risk | Pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
| RS1434924385 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS1471557079 | Health Risk | Pathogenic | — |
| RS1553134578 | Health Risk | Pathogenic | — |
| RS1557500194 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS1569713366 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS1569724692 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS1645855563 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS184406592 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2100743480 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2100743498 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2100756997 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2100758252 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, Ehlers-Danlos syndrome |
| RS2100760068 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2522799594 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2522804871 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2522814526 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2522828917 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2522831501 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2522849913 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2522852329 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2522861951 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2522862242 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2522862314 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2522874604 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2522874923 | Health Risk | Pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2522875116 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2522875121 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS766724096 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS776398739 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS779676937 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS797044447 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS797044448 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS886043926 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS121913551 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS121913554 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS1362343873 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS1439043436 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS1440249864 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS1645691337 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS745409628 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS886042976 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS886043927 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |