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P3H1 - prolyl 3-hydroxylase 1
- Synonym(s) : GROS1, growth suppressor 1, LEPRECAN, MGC117314, procollagen-proline 3-dioxygenase
- Previous symbols and names : LEPRE1, leucine proline-enriched proteoglycan (leprecan) 1
- Type : gene with protein product
- Chromosomal location : 1p34.2
- OMIM: 610339
- HGNC: 19316
- UniProtKB: Q32P28
- Genatlas: LEPRE1
- Ensembl: ENSG00000117385
- IUPHAR-DB: -
- Reactome: Q32P28
- LOVD: P3H1
Diseases list
- Disease-causing germline mutation(s) in Osteogenesis imperfecta type 2
ORPHA:216804 
- Disease-causing germline mutation(s) in Osteogenesis imperfecta type 3
ORPHA:216812
: AssessedAdditional information
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Research activities on this gene
Specialised Social Services
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