PLOD3 Antibody – Polyclonal

PLOD3: Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links. Defects in PLOD3 are the cause of lysyl hydroxylase 3 deficiency (LH3 deficiency); also known as bone fragility with contractures arterial rupture and deafness. LH3 deficiency is a connective tissue disorder. The syndrome is characterized by congenital malformations severely affecting many tissues and organs and revealing features of several collagen disorders, most of them involving COL2A1 (type II collagen). The findings suggest that the failure of lysyl hydroxylation and hydroxylysyl carbohydrate addition, which affects many collagens, is the molecular basis of this syndrome.

Protein type: Oxidoreductase; Endoplasmic reticulum; Amino Acid Metabolism - lysine degradation; EC 1.14.11.4

Chromosomal Location of Human Ortholog: 7q22

Cellular Component: endoplasmic reticulum membrane; endoplasmic reticulum; rough endoplasmic reticulum membrane

Molecular Function: protein binding; L-ascorbic acid binding; procollagen galactosyltransferase activity; procollagen-lysine 5-dioxygenase activity; iron ion binding; procollagen glucosyltransferase activity

Biological Process: neural tube development; extracellular matrix organization and biogenesis; protein localization; collagen fibril organization; in utero embryonic development; epidermis morphogenesis; protein modification process; endothelial cell morphogenesis; vasodilation; cellular response to hormone stimulus

Disease: Bone Fragility With Contractures, Arterial Rupture, And Deafness