Aliases for P3H3 Gene
External Ids for P3H3 Gene
Previous HGNC Symbols for P3H3 Gene
The protein encoded by this gene belongs to the leprecan family of proteoglycans, which function as collagen prolyl hydroxylases that are required for proper collagen biosynthesis, folding and assembly. This protein, like other family members, is thought to reside in the endoplasmic reticulum. Epigenetic inactivation of this gene is associated with breast and other cancers, suggesting that it may function as a tumor suppressor. [provided by RefSeq, Aug 2013]
GeneCards Summary for P3H3 Gene
P3H3 (Prolyl 3-Hydroxylase 3) is a Protein Coding gene. Diseases associated with P3H3 include Xanthogranulomatous Cholecystitis. Among its related pathways are Collagen chain trimerization and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include iron ion binding and L-ascorbic acid binding. An important paralog of this gene is P3H1.
UniProtKB/Swiss-Prot for P3H3 Gene
Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils. Required for normal hydroxylation of lysine residues in type I collagen chains in skin, bone, tendon, aorta and cornea. Required for normal skin stability via its role in hydroxylation of lysine residues in collagen alpha chains and in collagen fibril assembly. Apparently not required for normal prolyl 3-hydroxylation on collagen chains, possibly because it functions redundantly with other prolyl 3-hydroxylases.