Aliases for PLOD3 Gene
External Ids for PLOD3 Gene
Previous GeneCards Identifiers for PLOD3 Gene
The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008]
GeneCards Summary for PLOD3 Gene
PLOD3 (Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase 3) is a Protein Coding gene. Diseases associated with PLOD3 include lysyl hydroxylase 3 deficiency and connective tissue disorder due to lysyl hydroxylase-3 deficiency. Among its related pathways are Degradation of the extracellular matrix and Other types of O-glycan biosynthesis. GO annotations related to this gene include iron ion binding and procollagen-lysine 5-dioxygenase activity. An important paralog of this gene is COLGALT1.
UniProtKB/Swiss-Prot for PLOD3 Gene
Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links