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LEPRE1

Official Full Name
prolyl 3-hydroxylase 1
Organism
Homo sapiens
GeneID
64175
Background
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]
Synonyms
P3H1; OI8; GROS1; LEPRE1;

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