Synonyms: 2-oxoglutarate 5-dioxygenase 1,EDS6,LH,LH1,LLH,Lysine hydroxylase,Lysyl hydroxylase 1,PLOD,Plod1,PLOD1,Procollagen lysine 1 2 oxoglutarate 5 dioxygenase 1,Procollagen lysine 2 oxoglutarate 5 dioxygenase 1,Procollagen-lysine
Background: Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the 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 VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene.