Aliases for P3H1 Gene
External Ids for P3H1 Gene
Previous HGNC Symbols for P3H1 Gene
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 for P3H1 Gene
P3H1 (Prolyl 3-Hydroxylase 1) is a Protein Coding gene. Diseases associated with P3H1 include osteogenesis imperfecta, type viii and osteogenesis imperfecta, type iii. Among its related pathways are Degradation of the extracellular matrix and Collagen biosynthesis and modifying enzymes. GO annotations related to this gene include oxidoreductase activity and iron ion binding. An important paralog of this gene is P3H4.
UniProtKB/Swiss-Prot for P3H1 Gene
Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts.