| Description | Prolyl 3-Hydroxylase 1 |
| Category | Protein Coding |
| GIFtS | 39 |
| GC id | GC01M042746 |
| Score | 6.43 |
| Entrez Gene 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] |
| GeneCards Summary | P3H1 (Prolyl 3-Hydroxylase 1) is a Protein Coding gene. Diseases associated with P3H1 include Osteogenesis Imperfecta, Type Viii and Brittle Bone Disorder. Among its related pathways are Collagen formation and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and iron ion binding. An important paralog of this gene is P3H2. |
| Gene Database | GeneCards: The Human Gene Database |
| Price | Inquiry |
