Aliases for PLOD2 Gene
External Ids for PLOD2 Gene
Previous GeneCards Identifiers for PLOD2 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. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
GeneCards Summary for PLOD2 Gene
PLOD2 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2) is a Protein Coding gene. Diseases associated with PLOD2 include Bruck Syndrome 2 and Bruck Syndrome. Among its related pathways are Lysine degradation and Degradation of the extracellular matrix. GO annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is COLGALT1.
UniProtKB/Swiss-Prot for PLOD2 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.