Full name: prolyl 3-hydroxylase 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: GROS1; LEPRE1; OI8

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. Three 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, Aug 2011]

Expression: Ubiquitous expression in placenta (RPKM 18.9), testis (RPKM 10.8) and 24 other tissues

Gene size: 20655bp

Exon count: 16