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. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PLOD2-20-RE | 20 (40 μL) | 200 μL |  |
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| PLOD2-20-OR | 20 (40 μL) | 200 μL |  |
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| PLOD2-20-GO | 20 (40 μL) | 200 μL |  |
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| PLOD2-20-GR | 20 (40 μL) | 200 μL |  |
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| PLOD2-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Jul 2008]
Gene Symbol : PLOD2
Gene Name : Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
Chromosome : CHR 3: 146,161,494-146,069,435
Locus : 3q24
Alt. Genes : KIF20A
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