NP_000293.2
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
83,550 Da
NCBI Official Full Name
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
NCBI Official Synonym Full Names
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
NCBI Protein Information
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1; lysine hydroxylase; lysyl hydroxlase 1; procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
UniProt Protein Name
Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
UniProt Synonym Protein Names
Lysyl hydroxylase 1; LH1
UniProt Synonym Gene Names
UniProt Entry Name
PLOD1_HUMAN
NCBI Summary for PLOD1
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. [provided by RefSeq, Jul 2008]
UniProt Comments for PLOD1
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.
Protein type: Amino Acid Metabolism - lysine degradation; EC 1.14.11.4; Oxidoreductase
Chromosomal Location of Human Ortholog: 1p36.22
Cellular Component: endoplasmic reticulum membrane; rough endoplasmic reticulum membrane
Molecular Function: protein homodimerization activity; L-ascorbic acid binding; iron ion binding; procollagen-lysine 5-dioxygenase activity
Biological Process: hydroxylysine biosynthetic process; extracellular matrix organization and biogenesis; epidermis development; response to hypoxia; protein modification process
Disease: Ehlers-danlos Syndrome, Type Vi
Research Articles on PLOD1
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Pathways associated with PLOD1 elisa kit
Diseases associated with PLOD1 elisa kit
Organs/Tissues associated with PLOD1 elisa kit
|