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SERPINE1 gene

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

SERPINE1 gene

The SERPINE1 gene provides instructions for making the PAI-1 protein, which regulates blood clotting by preventing the premature breakdown of clots.

Normal Function

The SERPINE1 gene provides instructions for making a protein called plasminogen activator inhibitor 1 (PAI-1). PAI-1 is involved in normal blood clotting (hemostasis). After an injury, clots protect the body by sealing off damaged blood vessels.

The PAI-1 protein blocks the action of proteins called plasminogen activators (such as u-PA and t-PA). These activators convert plasminogen to plasmin, an enzyme that dissolves blood clots (fibrinolysis). By inhibiting this conversion, PAI-1 ensures that clots are only dissolved when they are no longer needed. Additionally, PAI-1 is thought to be involved in cell migration and the remodeling of body tissues.

Health Conditions Related to Genetic Changes

Complete plasminogen activator inhibitor 1 deficiency

At least three SERPINE1 gene mutations have been identified in people with complete plasminogen activator inhibitor 1 (PAI-1) deficiency. This disorder causes abnormal bleeding, characterized by:

  • Excessive bleeding after an injury that lasts longer than usual.
  • In females, excessive bleeding associated with menstruation (menorrhagia).
  • Abnormal bleeding during pregnancy and childbirth.

These mutations result in impaired production of PAI-1 or the production of nonfunctional/unstable protein. The absence of functional PAI-1 allows plasminogen activators to dissolve blood clots prematurely, leading to the abnormal bleeding associated with this disorder.

Other Names for This Gene

  • endothelial plasminogen activator inhibitor
  • PAI
  • PAI-1
  • PAI1
  • PLANH1
  • plasminogen activator inhibitor 1 precursor
  • serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
  • serpin E1
  • serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1

Frequently Asked Questions

The main warning signs of complete PAI-1 deficiency are abnormal and excessive bleeding. This includes prolonged bleeding after minor injuries, cuts, or dental procedures, frequent nosebleeds, easy bruising, and heavy or prolonged menstrual bleeding (menorrhagia) in females. Bleeding can also be significant during or after surgery, childbirth, or trauma.
Diagnosis of complete PAI-1 deficiency typically involves a combination of a detailed medical history focusing on bleeding episodes, physical examination, and specialized blood tests. These blood tests measure the levels and activity of PAI-1 in the blood. Genetic testing for variants in the SERPINE1 gene can confirm the diagnosis.
Management focuses on preventing and treating bleeding episodes. This may include antifibrinolytic medications, such as tranexamic acid or aminocaproic acid, which help stabilize blood clots. In severe bleeding situations or before surgery, infusions of plasma-derived products that contain PAI-1 may be considered. Avoiding medications that increase bleeding risk, like aspirin or NSAIDs, is also important.
It is crucial to inform all healthcare providers, including dentists and surgeons, about your PAI-1 deficiency before any procedures. They may need to administer medications to prevent excessive bleeding. For women with PAI-1 deficiency, close monitoring and specific management plans are essential during pregnancy and childbirth to address the increased risk of bleeding complications. Always carry medical identification indicating your condition.
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.