PLOD3 Chromosome 7
Procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
Upload your DNA to see your personal genotypes for variants in PLOD3.
What This Gene Does
The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough 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 VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Procollagen-lysine,2-oxoglutarate 5-dioxygenase family
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000106397
Associated Conditions (14)
Inborn genetic diseases
Acute myeloid leukemia
Clear cell carcinoma of kidney
Gastric cancer
Bone fragility with contractures
arterial rupture
and deafness
Hemorrhage
intracerebral
susceptibility to
PLOD3-related disorder
Lymphoma
Ovarian cancer
Neurodevelopmental delay
Key Variants
RS137857342
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138002558
Conflicting classifications of pathogenicity
Acute myeloid leukemia, Clear cell carcinoma of kidney, Gastric cancer
Health Risk
RS138165832
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143574903
Conflicting classifications of pathogenicity
Health Risk
RS143577626
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143734860
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143759215
Conflicting classifications of pathogenicity
Bone fragility with contractures, arterial rupture, and deafness
Health Risk
RS144851657
Conflicting classifications of pathogenicity
Health Risk
RS145508748
Conflicting classifications of pathogenicity
Hemorrhage, intracerebral, susceptibility to
Health Risk
RS1457671346
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147622037
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148219926
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (51)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137857342 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS138002558 | Health Risk | Conflicting classifications of pathogenicity | Acute myeloid leukemia, Clear cell carcinoma of kidney, Gastric cancer |
| RS138165832 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143574903 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143577626 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases |
| RS143734860 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143759215 | Health Risk | Conflicting classifications of pathogenicity | Bone fragility with contractures, arterial rupture, and deafness |
| RS144851657 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145508748 | Health Risk | Conflicting classifications of pathogenicity | Hemorrhage, intracerebral, susceptibility to |
| RS1457671346 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147622037 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148219926 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148949172 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150135216 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150873622 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PLOD3-related disorder, Inborn genetic diseases |
| RS200949505 | Health Risk | Conflicting classifications of pathogenicity | Bone fragility with contractures, arterial rupture, and deafness |
| RS201666755 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202176617 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373970754 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS377320080 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS529683884 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS745986631 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS761931995 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS768455387 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Ovarian cancer, Inborn genetic diseases |
| RS770077760 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771549876 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776439156 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS112740455 | Health Risk | Likely pathogenic | — |
| RS1158167906 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS1562894320 | Health Risk | Likely pathogenic | Bone fragility with contractures, arterial rupture, and deafness |
| RS2535158272 | Health Risk | Likely pathogenic | — |
| RS2535169770 | Health Risk | Likely pathogenic | — |
| RS2535178516 | Health Risk | Likely pathogenic | — |
| RS753360539 | Health Risk | Likely pathogenic | Bone fragility with contractures, arterial rupture, and deafness |
| RS773991952 | Health Risk | Likely pathogenic | — |
| RS775566357 | Health Risk | Likely pathogenic | — |
| RS1213976958 | Health Risk | Pathogenic | — |
| RS1269424201 | Health Risk | Pathogenic | — |
| RS1463452672 | Health Risk | Pathogenic | — |
| RS1798091848 | Health Risk | Pathogenic | Bone fragility with contractures, arterial rupture, and deafness |
| RS201613747 | Health Risk | Pathogenic | — |
| RS2535167499 | Health Risk | Pathogenic | — |
| RS2535171366 | Health Risk | Pathogenic | — |
| RS2535179077 | Health Risk | Pathogenic | — |
| RS2535180472 | Health Risk | Pathogenic | — |
| RS746342377 | Health Risk | Pathogenic | — |
| RS749921338 | Health Risk | Pathogenic | Bone fragility with contractures, arterial rupture, and deafness |
| RS770446713 | Health Risk | Pathogenic | — |
| RS773194811 | Health Risk | Pathogenic | — |
| RS786205872 | Health Risk | Pathogenic | Bone fragility with contractures, arterial rupture, and deafness |