Products

Immunoprecipitation-Western Blot

Entrez GeneID

Gene Name

PLOD2

Gene Alias

LH2, TLH

Gene Description

procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2

Omim ID

Gene Ontology

Gene 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

Other Designations

lysine hydroxylase 2|lysyl hydroxylase 2|telopeptide lysyl hydroxylase