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The official name of this gene is “procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1.”
PLOD1 is the gene's official symbol. The PLOD1 gene is also known by other names, listed below.
The PLOD1 gene provides instructions for making an enzyme called lysyl hydroxylase 1. This enzyme modifies an amino acid called lysine, which is one of the building blocks used to make proteins. Specifically, lysyl hydroxylase 1 converts lysine to a similar molecule, hydroxylysine, through a chemical reaction called hydroxylation. Hydroxylysine is commonly found in collagens, which are complex molecules that provide strength and support to many body tissues.
Hydroxylysine is essential for collagen molecules to form stable interactions, called cross-links, with one another in the spaces between cells. The cross-links result in the formation of very strong collagen fibers.
More than 30 mutations in the PLOD1 gene have been found to cause a form of Ehlers-Danlos syndrome called the kyphoscoliosis type. Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. The kyphoscoliosis type is characterized by an unusually large range of joint movement (hypermobility) and severe, progressive curvature of the spine that can interfere with breathing.
The most common PLOD1 gene mutation copies (duplicates) a large portion of the gene, resulting in the production of a nonfunctional version of the lysyl hydroxylase 1 enzyme. Several other mutations introduce premature stop signals that prevent the production of any functional enzyme. A loss of lysyl hydroxylase 1 activity greatly reduces the amount of hydroxylysine, which impairs cross-linking between collagen molecules. This disruption in the network of collagen fibers weakens connective tissues, causing the signs and symptoms of the kyphoscoliosis type of Ehlers-Danlos syndrome.
Cytogenetic Location: 1p36.22
Molecular Location on chromosome 1: base pairs 11,934,667 to 11,975,542
The PLOD1 gene is located on the short (p) arm of chromosome 1 at position 36.22.
More precisely, the PLOD1 gene is located from base pair 11,934,667 to base pair 11,975,542 on chromosome 1.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about PLOD1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
amino acid ; collagen ; enzyme ; gene ; hypermobility ; joint ; kyphoscoliosis ; L-lysine ; lysine ; molecule ; mutation ; oxidoreductase ; oxygen ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.