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
NM_001146289.1
NM_001243246.1

pathways
Collagen biosynthesis and modifying enzymes [NCBI:1270246] [REACTOME:R-HSA-1650814] [PUBMED:17550969] [PUBMED:14698617]
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]