EuRBPDB

Ensembl ID

ENSG00000152952 (Gene tree)

Gene ID

5352

Gene Symbol

PLOD2

Alias

LH2

Full Name

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

Gene Type

protein_coding

Specie

Homo_sapiens

Strand

Minus strand

Length

94,218 bases

Position

chr3:146,069,436-146,163,653

Accession

9082

Summary

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]