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PLG gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PLG gene

The PLG gene provides instructions for producing plasminogen, a protein essential for breaking down blood clots and supporting tissue repair.

Normal Function

The PLG gene provides instructions for making the protein plasminogen, which is produced in the liver. Through the action of enzymes known as plasminogen activators, plasminogen is converted into plasmin. Plasmin breaks down fibrin, the primary protein involved in blood clots. This process is vital for wound healing, as it clears away excess fibrin to allow normal, flexible tissue to grow back.

Health Conditions Related to Genetic Changes

Congenital plasminogen deficiency

More than 50 mutations in the PLG gene have been identified in individuals with congenital plasminogen deficiency. This condition is characterized by the development of hard growths on mucous membranes, such as the inside of the mouth or the eyelids.

  • Type I deficiency: Mutations affect both the levels and the function of plasminogen, leading to the characteristic growths.
  • Type II deficiency (dysplasminogenemia): Mutations result in normal levels of plasminogen but with reduced activity; this form often presents without symptoms.
  • Pathology: A reduction in functional plasminogen leads to insufficient plasmin, causing a buildup of fibrin and subsequent tissue inflammation.

While excess fibrin accumulates in mucous membranes, it does not typically cause abnormal blood clots (thromboses) in blood vessels, likely because other enzymes in the blood may compensate for the reduced plasminogen levels.

Genomic Location

The PLG gene is located on chromosome 6.

Frequently Asked Questions

Treatment is generally focused on removing the fibrous growths as they appear, often through surgical excision or laser therapy. While there is no cure for the underlying genetic defect, managing these growths is crucial to prevent complications such as difficulty breathing, eating, or seeing, and regular monitoring by a specialist is recommended to address new formations promptly.
Type I deficiency is characterized by the development of hard, fibrous growths on mucous membranes, such as the inside of the mouth, eyelids, or nose, due to a lack of functional plasminogen. In contrast, Type II deficiency, also known as dysplasminogenemia, typically presents without these visible growths because the body produces normal levels of the protein, even though its activity is reduced.
lthough plasminogen is essential for breaking down clots, the deficiency primarily affects fibrin buildup in tissue and mucous membranes rather than within the blood vessels. This is likely because other enzymatic pathways in the blood can compensate for the reduced plasminogen levels, preventing the formation of abnormal thromboses in the circulatory system.
The condition is inherited in an autosomal recessive pattern, meaning an individual must inherit two mutated copies of the PLG gene, one from each parent, to develop the disorder. If both parents are carriers, there is a 25 percent chance with each pregnancy that the child will be affected, a 50 percent chance the child will be a carrier, and a 25 percent chance the child will not be affected.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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