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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: LH2; lysine hydroxylase 2; lysyl hydroxlase 2; Lysyl hydroxylase 2; procollagen-lysine 5-dioxygenase; procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2; Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2; telopeptide lysyl hydroxylase
基因别名: BRKS2; LH2; PLOD2; TLH
UniProt ID: (Human) O00469
Entrez Gene ID: (Human) 5352