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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for LEPRE1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID64175
Official gene symbolLEPRE1
Full nameleucine proline-enriched proteoglycan (leprecan) 1
Aliases,GROS1,MGC117314,OI8,P3H1,
Gene summaryThis 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]
LocationChromosome: 1   Locus: 1p34.1
Gene position43232755 - 43212006  Map Viewer
Gene orientationminus
Gene size20750 bp
Gene sequence
OMIM ID610339