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 |
|---|---|---|---|
| RS1032781250 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS112250644 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS11553676 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS1176136454 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS1264171984 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS1273287120 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS1310692062 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS138490756 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS1391173198 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection, kyphoscoliotic type 1 |
| RS139869965 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS140159343 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS140513387 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS140758113 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS142710681 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS142934642 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS143114026 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS144226170 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS144439284 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS144465849 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145482271 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS146092290 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS147940796 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS147980436 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS149425237 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS1553136318 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS1569708580 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS199669594 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS199946373 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS200131516 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS200395169 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS201661871 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS201888323 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS369263247 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS370305686 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS370358836 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS371488160 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS372579008 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS373165011 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS373324035 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS373471550 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS375416784 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS376288573 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS377406897 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS534978828 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, PLOD1-related disorder |
| RS538255620 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS541901674 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS557317492 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS565216977 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome |
| RS565513365 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |
| RS565765056 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, kyphoscoliotic type 1, Familial thoracic aortic aneurysm and aortic dissection |