Leucine Proline Enriched Proteoglycan 1 (LEPRE1)

LEPRE1 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.The deduced P3H1 protein contains 736 amino acids. All P3H proteins have a highly conserved C-terminal domain that contains critical catalytic residues found in lysyl and prolyl 4-hydroxylases, including 2 iron-binding histidines and an aspartic acid, as well as a C-terminal rough ER retention motif (KDEL).