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PLOD1 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 PLOD1 are the cause of Ehlers-Danlos syndrome type 6 (EDS6). EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS6 is characterized by the presence of ocular complications, particularly retinal detachment. Defects in PLOD1 are the cause of Nevo syndrome (NEVOS). This is a rare, autosomal recessive disorder characterized by increased perinatal length, kyphosis, muscular hypotonia, and joint laxity. Nevo syndrome and EDS-VI have similar clinical phenotypes. Some authors consider that both syndromes are the same clinical entity. Note: This description may include information from UniProtKB.
Protein type: Amino Acid Metabolism - lysine degradation; EC; Oxidoreductase
Chromosomal Location of Human Ortholog: 1p36.22
Cellular Component: endoplasmic reticulum membrane; rough endoplasmic reticulum membrane
Molecular Function: iron ion binding; L-ascorbic acid binding; procollagen glucosyltransferase activity; procollagen-lysine 5-dioxygenase activity; protein homodimerization activity
Biological Process: cellular protein modification process; epidermis development; hydroxylysine biosynthetic process; peptidyl-lysine hydroxylation; protein O-linked glycosylation; response to hypoxia
Disease: Ehlers-danlos Syndrome, Type Vi
Reference #:  Q02809 (UniProtKB)
Alt. Names/Synonyms: FLJ42041; LH; LH1; LLH; lysine hydroxylase; Lysyl hydroxylase 1; PLOD; PLOD1; procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1; procollagen-lysine, 2-oxoglutarate 5-dioxygenase; Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
Gene Symbols: PLOD1
Molecular weight: 83,550 Da
Basal Isoelectric point: 6.46  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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