基因名：
P3h1
产品别名：
2410024C15Rik； Gros1； Lepre1； P3h1； prolyl 3-hydroxylase 1； prolyl 3-hydroxylase 1； prolyl 3-hydroxylase 1； growth suppressor 1； leprecan 1； leucine- and proline-enriched proteoglycan 1； 生长抑制因子1；
背景信息：
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]
