Aliases for PLOD1 Gene
External Ids for PLOD1 Gene
Previous HGNC Symbols for PLOD1 Gene
Previous GeneCards Identifiers for PLOD1 Gene
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]
GeneCards Summary for PLOD1 Gene
PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1) is a Protein Coding gene. Diseases associated with PLOD1 include Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 and Kyphoscoliotic Ehlers-Danlos Syndrome. Among its related pathways are Degradation of the extracellular matrix and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and iron ion binding. An important paralog of this gene is PLOD2.
UniProtKB/Swiss-Prot Summary for PLOD1 Gene
Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils (By similarity). Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens (PubMed:8621606, PubMed:10686424, PubMed:15854030). These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links (Probable).