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. [provided by RefSeq, Jul 2008]

Description

Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

Tissue specificity

Low tissue specificity

Subcell location

Nucleoli, Cytosol

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

3 (146069440 - 146163653)

Ensembl ID

ENSG00000152952  (ver. 103.38)

Orthologs

Mouse Plod2: ENSMUSG00000032374

UniProt

O00469

neXtProt

NX_O00469

Human splice variants
Mouse splice variants

Protein structure