Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

PLOD1

Reviewed May 2006

What is the official name of the PLOD1 gene?

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.

What is the normal function of the PLOD1 gene?

The PLOD1 gene provides instructions for making an enzyme called lysyl hydroxylase 1. This enzyme modifies a particular amino acid called lysine, which is one of the building blocks used to make proteins. Specifically, lysyl hydroxylase 1 adds a single oxygen atom to a hydrogen atom to create a charged molecule called a hydroxyl group. Hydroxyl groups attach to some of the lysines in collagen-like proteins. Collagens are complex molecules that provide strength, support, and elasticity (the ability to stretch) to many body tissues.

The addition of hydroxyl groups is essential for collagen molecules to form stable interactions, called cross-links, with one another. Cross-links between these molecules allow collagen to form networks of strong, slender fibrils, which are an important part of the normal structure of connective tissue (the tissue that binds and supports the body's muscles, ligaments, organs, and skin).

How are changes in the PLOD1 gene related to health conditions?

Ehlers-Danlos syndrome - caused by mutations in the PLOD1 gene

More than 20 disorder-causing mutations have been identified in the PLOD1 gene. These mutations cause a form of Ehlers-Danlos syndrome called the kyphoscoliosis type. The most common mutation 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 gene from making any functional enzyme. A loss of lysyl hydroxylase 1 activity impairs cross-linking between collagen molecules. This disruption in the network of collagen fibrils weakens connective tissues, causing the signs and symptoms of Ehlers-Danlos syndrome.

A condition called Nevo syndrome is also caused by mutations in the PLOD1 gene. The characteristic features of this disorder include increased growth before and after birth, an abnormally rounded upper back (kyphosis), weak muscle tone (hypotonia), and abnormalities of the hands and feet. Based on similarities in their signs and symptoms and an analysis of the PLOD1 mutations, some researchers now believe that Nevo syndrome and Ehlers-Danlos syndrome, kyphoscoliosis type are the same disorder.

Where is the PLOD1 gene located?

Cytogenetic Location: 1p36.22

Molecular Location on chromosome 1: base pairs 11,934,666 to 11,975,541

The PLOD1 gene is located on the short (p) arm of chromosome 1 at position 36.22.

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 11,934,666 to base pair 11,975,541 on chromosome 1.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about PLOD1?

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.

What other names do people use for the PLOD1 gene or gene products?

  • Collagen Lysyl Hydroxylase
  • LH
  • LH1
  • LLH
  • Lysine 2-Oxoglutarate Dioxygenase
  • Lysine Hydroxylase
  • Lysyl Hydroxylase
  • PLOD
  • PLOD1_HUMAN
  • Procollagen-L-lysine,2-oxoglutarate:oxygen oxidoreductase (5-hydroxylating)
  • procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
  • procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)
  • Protocollagen Lysyl Hydroxylase

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding PLOD1?

amino acid ; atom ; collagen ; connective tissue ; enzyme ; gene ; hydroxyl ; hypotonia ; kyphoscoliosis ; L-lysine ; lysine ; molecule ; muscle tone ; mutation ; oxidoreductase ; oxygen ; syndrome ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Eyre D, Shao P, Weis MA, Steinmann B. The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine. Mol Genet Metab. 2002 Jul;76(3):211-6. (http://www.ncbi.nlm.nih.gov/pubmed/12126935?dopt=Abstract)
  • Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B. Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). Am J Med Genet A. 2005 Mar 1;133A(2):158-64. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15666309?dopt=Abstract)
  • Giunta C, Randolph A, Steinmann B. Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). Mol Genet Metab. 2005 Sep-Oct;86(1-2):269-76. Epub 2005 Jun 24. (http://www.ncbi.nlm.nih.gov/pubmed/15979919?dopt=Abstract)
  • Heikkinen J, Toppinen T, Yeowell H, Krieg T, Steinmann B, Kivirikko KI, Myllylä R. Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome. Am J Hum Genet. 1997 Jan;60(1):48-56. (http://www.ncbi.nlm.nih.gov/pubmed/8981946?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5351)
  • Walker LC, Overstreet MA, Siddiqui A, De Paepe A, Ceylaner G, Malfait F, Symoens S, Atsawasuwan P, Yamauchi M, Ceylaner S, Bank RA, Yeowell HN. A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient. J Invest Dermatol. 2005 May;124(5):914-8. (http://www.ncbi.nlm.nih.gov/pubmed/15854030?dopt=Abstract)
  • Yeowell HN, Walker LC. Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. Mol Genet Metab. 2000 Sep-Oct;71(1-2):212-24. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11001813?dopt=Abstract)

 

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.

 
Reviewed: May 2006
Published: November 17, 2014