PLOD1 gene

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

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 kyphoscoliotic 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 kyphoscoliotic type is characterized by an unusually large range of joint movement (hypermobility), weak muscle tone (hypotonia), and severe, progressive curvature of the spine that can interfere with breathing.

The most common PLOD1 gene mutation abnormally 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 kyphoscoliotic type of Ehlers-Danlos syndrome.

Cytogenetic Location: 1p36.22, which is the short (p) arm of chromosome 1 at position 36.22

Molecular Location: base pairs 11,934,667 to 11,975,542 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p36.22, which is the short (p) arm of chromosome 1 at position 36.22
  • collagen lysyl hydroxylase
  • LH
  • LH1
  • LLH
  • lysine 2-oxoglutarate dioxygenase
  • lysine hydroxylase
  • lysyl hydroxylase
  • PLOD
  • 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)
  • procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
  • protocollagen lysyl hydroxylase