PLOD2, Official Symbol PLOD2provided by HGNC Official Full Name procollagen-lysine,2-oxoglutarate 5-dioxygenase 2provided by HGNC Primary source HGNC:HGNC:9082 See related Ensembl:ENSG00000152952 MIM:601865; AllianceGenome:HGNC:9082 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LH2; TLH; BRKS2 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] Expression Broad expression in thyroid (RPKM 48.4), fat (RPKM 35.4) and 19 other tissues See more Orthologs mouse all