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GP6 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

GP6 gene

The GP6 gene provides instructions for making glycoprotein VI, a receptor protein on platelets that triggers blood clot formation in response to injury.

Normal Function

The GP6 gene provides instructions for making a protein called glycoprotein VI (GPVI). GPVI is a receptor protein that is embedded in the outer membrane of blood cells called platelets, which are an essential component of blood clots. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss.

Receptor proteins, like GPVI, have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell function. The main ligand for GPVI is a protein called collagen, which is found on blood vessel walls. In response to an injury that causes bleeding, the GPVI protein attaches (binds) to collagen, which begins clot formation and signals additional platelets to come together to increase the size of the clot. The GPVI protein can also bind to a protein called fibrin, which is the main protein that forms blood clots.

Health Conditions Related to Genetic Changes

Glycoprotein VI deficiency

At least five mutations in the GP6 gene have been found to cause glycoprotein VI deficiency, a bleeding disorder associated with a decreased ability to form blood clots. The mutations lead to the production of no GPVI protein; an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently at the site of an injury to form a clot, leading to an increased risk of nosebleeds, abnormally heavy or prolonged bleeding following minor injury or surgery, or other bleeding problems associated with glycoprotein VI deficiency.

Other Names for This Gene

  • glycoprotein 6
  • GPVI
  • GPVI collagen receptor
  • platelet collagen receptor
  • platelet glycoprotein VI
  • platelet membrane glycoprotein VI

Frequently Asked Questions

GPVI deficiency is inherited in an autosomal recessive pattern. Both parents must carry a pathogenic variant for a child to be affected. Genetic counseling and carrier testing for relatives can help assess risk and guide family planning.
Diagnosis typically involves platelet function tests such as aggregometry, flow cytometry to assess GPVI surface expression, and confirmatory genetic testing for mutations in the GP6 gene. A normal platelet count with abnormal GPVI function points toward this disorder.
Patients with GPVI deficiency often experience easy bruising, frequent nosebleeds (epistaxis), heavy menstrual bleeding, and prolonged bleeding after minor cuts or dental procedures. Severe bleeding is uncommon but can occur after major trauma or surgery.
Management focuses on preventing and controlling bleeding: avoid NSAIDs and aspirin, use antifibrinolytic agents (e.g., tranexamic acid) for heavy menstrual bleeding, consider platelet transfusions for major procedures, and use topical hemostatic agents for minor cuts. Regular monitoring and individualized plans are essential.
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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