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Shirley, MA 01464
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20700 44th Avenue W
Lynnwood, WA 98036
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PLOD2
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD2 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.
| Gene Name: | procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 |
| Synonyms: | PLOD2, Lysyl hydroxylase 2, Lysyl hydroxlase 2, TLH, LH2, Lysine hydroxylase 2, Lysyl hydroxylase isoform 2 |
| Target Sequences: | NM_000935 NP_000926.2 O00469 |
Publications (1)
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