LEPRE1: Proteins and Enzymes

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. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.