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

VWF gene

The VWF gene provides instructions for creating von Willebrand factor, a protein essential for blood clotting and preventing excessive blood loss.

Normal Function

The VWF gene provides instructions for making a blood clotting protein called von Willebrand factor. This protein is produced in endothelial cells (which line blood vessels) and bone marrow cells. It functions by helping platelets stick together and adhere to vessel walls at the site of an injury, forming a temporary plug. Additionally, it carries coagulation factor VIII, another protein necessary for clot formation, to the site of injury.

Health Conditions Related to Genetic Changes

Von Willebrand disease

More than 300 mutations in the VWF gene have been identified as causes of von Willebrand disease. These mutations lead to prolonged bleeding episodes through various mechanisms:

  • Type 1: Mutations reduce the overall amount of von Willebrand factor in the bloodstream.
  • Type 2: Mutations disrupt the function of the factor, preventing it from binding correctly to cells and proteins.
  • Type 3: Mutations result in an abnormally short, nonfunctional version of the protein, leading to more severe symptoms.

Other Names for This Gene

  • coagulation factor VIII VWF
  • F8VWF
  • VWD

Genomic Location

The VWF gene is found on chromosome 12.

Frequently Asked Questions

Genetic testing for VWF mutations is done by sequencing the VWF gene from a blood sample. No special preparation is usually required, but you should inform the lab if you are taking medications that affect clotting (e.g., aspirin, anticoagulants) as they may influence baseline clotting assays. Discuss with your clinician whether a full gene panel or targeted mutation analysis is appropriate for your situation.
low von Willebrand factor level indicates that the protein is not being produced in sufficient quantity or is being degraded too quickly. This can be due to a type 1 or type 3 von Willebrand disease. Your clinician will review your bleeding history, family history, and may repeat the test or perform additional assays (e.g., factor VIII activity, ristocetin cofactor activity) to confirm the diagnosis and determine the severity.
Treatment depends on the type and severity. Options include desmopressin (which releases stored von Willebrand factor), intravenous von Willebrand factor concentrates, or factor VIII concentrates that contain von Willebrand factor. For type 3 disease, regular infusions of von Willebrand factor/factor VIII are often required. Your hematologist will tailor therapy to your bleeding risk and lifestyle.
Von Willebrand disease is inherited in an autosomal dominant pattern for type 1 and type 2, and autosomal recessive for type 3. If you have a dominant form, each child has a 50 % chance of inheriting the mutation. If you have a recessive form, both parents must carry a mutation; each child has a 25 % chance of being affected. Genetic counseling can help you understand the specific risks based on your mutation type.
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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