靶标:
PLOD1
产品别名:
EDS6; EDSKCL1; LH; LH1; LLH; PLOD; PLOD1; procollagen-lysine,2-oxoglutarate 5-dioxygenase 1; procollagen-lysine,2-oxoglutarate 5-dioxygenase 1; procollagen-lysine,2-oxoglutarate 5-dioxygenase 1; lysine hydroxylase; lysyl hydroxlase 1; procollagen lysyl hydroxylase 1; procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1; 前胶原赖氨酸-1,2-酮戊二酸-5-双加氧酶1(PLOD1);
背景信息:
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. [provided by RefSeq, Oct 2015],