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 |
|---|---|---|---|
| RS566018612 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS569590633 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS569632202 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS576907642 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS746072884 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome |
| RS746354303 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS746658625 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS746930362 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS748526375 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS750100311 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS750987724 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, PLOD1-related disorder |
| RS756553633 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
| RS756917169 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS757393804 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS760584840 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS761576315 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS763409574 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS764179880 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS767068264 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS771746998 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS772221158 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, Ehlers-Danlos syndrome |
| RS773547480 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS773756799 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS776128914 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS779840832 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS780519821 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS992278231 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS112460511 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS1301268055 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS1375808651 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS1389548210 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS1401035675 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS1411944871 | Health Risk | Likely pathogenic | — |
| RS1553137486 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS1645686564 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS199730384 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS2100754171 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, Ehlers-Danlos syndrome |
| RS2100764790 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2522799648 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2522805333 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2522822079 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2522834464 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2522849935 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS2522850390 | Health Risk | Likely pathogenic | PLOD1-related disorder, Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
| RS2522852699 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS369038766 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS571824470 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS761014653 | Health Risk | Likely pathogenic | PLOD1-related disorder, PLOD1-related disorder |
| RS769451292 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS797044446 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |