This antibody is specific to PLOD2.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: LH2; lysine hydroxylase 2; lysyl hydroxlase 2; Lysyl hydroxylase 2; Procollagen-lysine 2-oxoglutarate 5-dioxygenase (Lysine hydroxylase) 2; procollagen-lysine 5-dioxygenase; Procollagen-lysine, 2-oxoglutarate 5-dioxygenase (Lysine hydroxylase) 2; procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2; Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2; telopeptide lysyl hydroxylase
Gene Aliases: BRKS2; D530025C14Rik; LH2; Plod-2; PLOD2; TLH