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PLOD / PLOD1
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
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.
| Gene Name: | procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
| Synonyms: | PLOD1, LLH, Lysyl hydroxlase 1, PLOD, LH, LH1, Lysine hydroxylase, Lysyl hydroxylase 1, EDS6 |
| Target Sequences: | NM_000302 NP_000293.2 Q02809 |
Publications (1)
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