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lepre1

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Official Full Name
leucine proline-enriched proteoglycan (leprecan) 1
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.
Synonyms
LEPRE1; leucine proline-enriched proteoglycan (leprecan) 1; prolyl 3-hydroxylase 1; GROS1; growth suppressor 1; LEPRECAN; MGC117314; P3H1; prolyl 3 hydroxylase 1; leucine- and proline-enriched proteoglycan 1; OI8; leprecan 1; leprecan-1 homolog; leucine- and proline-enriched proteoglycan 1 homolog