基因名:
PLOD3
产品别名:
LH3; PLOD3; procollagen-lysine,2-oxoglutarate 5-dioxygenase 3; procollagen-lysine,2-oxoglutarate 5-dioxygenase 3; multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3; lysine hydroxylase 3; lysyl hydroxlase 3; lysyl hydroxylase 3; 前胶原赖氨酸-2-酮戊二酸-5-双加氧酶1(PLOD3); 赖氨酸羟化酶3;
背景信息:
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]