{"symbol":"PLOD1","synonyms":["LLH","LH","EDS6","LH1","PLOD","EDSKCL1"],"name":"procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1","description":"Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the 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 VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]","ncbiEntrezGeneId":5351,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5351","proteins":[{"symbol":"PLOD1_HUMAN","href":"/api/1.0/protein/PLOD1_HUMAN"}],"hgncRootFamilies":[]}