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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]
Enzymes ENZYME proteins Oxidoreductases Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001666 [response to hypoxia] GO:0005506 [iron ion binding] GO:0005783 [endoplasmic reticulum] GO:0005789 [endoplasmic reticulum membrane] GO:0006464 [cellular protein modification process] GO:0008475 [procollagen-lysine 5-dioxygenase activity] GO:0016491 [oxidoreductase activity] GO:0016705 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0030198 [extracellular matrix organization] GO:0030867 [rough endoplasmic reticulum membrane] GO:0031418 [L-ascorbic acid binding] GO:0032870 [cellular response to hormone stimulus] GO:0055114 [oxidation-reduction process] GO:0070062 [extracellular exosome] GO:0098779 [mitophagy in response to mitochondrial depolarization]
Enzymes ENZYME proteins Oxidoreductases Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001666 [response to hypoxia] GO:0005506 [iron ion binding] GO:0005783 [endoplasmic reticulum] GO:0005789 [endoplasmic reticulum membrane] GO:0006464 [cellular protein modification process] GO:0008475 [procollagen-lysine 5-dioxygenase activity] GO:0016491 [oxidoreductase activity] GO:0016705 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0030198 [extracellular matrix organization] GO:0030867 [rough endoplasmic reticulum membrane] GO:0031418 [L-ascorbic acid binding] GO:0055114 [oxidation-reduction process] GO:0070062 [extracellular exosome] GO:0098779 [mitophagy in response to mitochondrial depolarization]
