Entrez gene ID | | 64175 |
Official gene symbol | | LEPRE1 |
Full name | | leucine proline-enriched proteoglycan (leprecan) 1 |
Aliases | | ,GROS1,MGC117314,OI8,P3H1, |
Gene summary | | 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. Two 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] |
Location | | Chromosome: 1 Locus: 1p34.1 |
Gene position | | 43232755 - 43212006 Map Viewer |
Gene orientation | | minus |
Gene size | | 20750 bp |
Gene sequence |
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OMIM ID | | 610339 |