P3H1 Chromosome 1
Prolyl 3-hydroxylase 1
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What This Gene Does
This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
Prolyl 3-hydroxylase family
Locus Type
gene with protein product
Location
1p34.2
Ensembl
ENSG00000117385
Associated Conditions (21)
Osteogenesis imperfecta type 8
Osteogenesis imperfecta
P3H1-related disorder
Clear cell carcinoma of kidney
Colorectal cancer
Hepatocellular carcinoma
Lung cancer
Colon adenocarcinoma
Sarcoma
Malignant tumor of urinary bladder
Malignant tumor of esophagus
Cervical cancer
Familial cancer of breast
Gastric cancer
Ovarian serous cystadenocarcinoma
Melanoma
Acute myeloid leukemia
Osteogenesis Imperfecta
Recessive
Inborn genetic diseases
+1 more conditions
Key Variants
RS113593896
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Osteogenesis imperfecta, P3H1-related disorder
Health Risk
RS114044880
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Osteogenesis Imperfecta, Recessive
Health Risk
RS115108794
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Osteogenesis Imperfecta, Recessive
Health Risk
RS11581921
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Osteogenesis Imperfecta, Recessive
Health Risk
RS1237398609
Conflicting classifications of pathogenicity
Osteogenesis Imperfecta, Recessive, Osteogenesis imperfecta type 8
Health Risk
RS13871
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Osteogenesis Imperfecta, Recessive
Health Risk
RS139259804
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Osteogenesis Imperfecta, Recessive
Health Risk
RS140254470
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Inborn genetic diseases, P3H1-related disorder
Health Risk
RS140334418
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Osteogenesis Imperfecta, Recessive
Health Risk
RS141786883
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Osteogenesis Imperfecta, Recessive
Health Risk
RS149113630
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Osteogenesis Imperfecta, Recessive
Health Risk
RS149894086
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, P3H1-related disorder, Inborn genetic diseases
Health Risk
All Variants (159)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS72659347 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8 |
| RS72659353 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type 8, P3H1-related disorder, Familial cancer of breast |
| RS72659356 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis Imperfecta, Recessive, Osteogenesis imperfecta type 8 |
| RS752575140 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta, Osteogenesis imperfecta type 8, Osteogenesis imperfecta |
| RS752671524 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8 |
| RS755665899 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8 |
| RS771006240 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8 |
| RS773269078 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8 |
| RS780595278 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8 |