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Genes
P3H1
Gene - P3H1
full name
prolyl 3-hydroxylase 1
synonyms
GROS1, OI8, P3H1, LEPRE1, ENSG00000117385
HGNC
HGNC:19316
Entrez Gene
Gene:64175
ENSEMBL
ENSG00000117385
location
chr: 1
start: 43212006
stop: 43232755
strand: -
OMIM
OMIM:610339
: P3H1
(Autosomal recessive inheritance)
OMIM:610915
: Osteogenesis imperfecta, type VIII
transcripts
ENST00000296388.5
NM_001146289.1
NM_001243246.1
pathways
Collagen biosynthesis and modifying enzymes
[NCBI:1270246]
[REACTOME:R-HSA-1650814]
[PUBMED:14698617]
[PUBMED:17550969]
Collagen formation
[NCBI:1270245]
[REACTOME:R-HSA-1474290]
[PUBMED:7574488]
[PUBMED:19693541]
Extracellular matrix organization
[NCBI:1270244]
[REACTOME:R-HSA-1474244]
[PUBMED:21123617]
[PUBMED:21917992]
[PUBMED:12845610]