Gene: PLOD2
Alternate names for this Gene: BRKS2|LH2|TLH
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.
Gene is located in Chromosome: 3
Location in Chromosome : 3q24
Description of this Gene: procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
Type of Gene: protein-coding
rs148051196 in
PLOD2 gene and
Body Height
PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs121434459 in
PLOD2 gene and
Bruck syndrome 2
PMID 12881513 2003 Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis.
PMID 15523624 2004 Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.