F11 gene
The F11 gene provides instructions for making coagulation factor XI, a protein that plays a critical role in the coagulation cascade to form blood clots.
Normal Function
The F11 gene provides instructions for making the protein factor XI. This protein is a key component of the coagulation cascade, a series of chemical reactions that form blood clots in response to injury. Produced primarily in the liver, factor XI circulates in the bloodstream in an inactive state. When activated by an injury, it interacts with other coagulation factors to convert prothrombin into thrombin. Thrombin then converts fibrinogen into fibrin, which creates the physical structure of a blood clot.
Health Conditions Related to Genetic Changes
Factor XI deficiency
Approximately 250 mutations in the F11 gene have been found to cause factor XI deficiency. While typically mild, this bleeding disorder can cause:
- Nosebleeds
- Easy bruising
- Bleeding under the skin
- Bleeding of the gums
- Prolonged or excessive bleeding following surgery, dental procedures, or trauma
Mutations reduce the amount of factor XI in the blood or result in a protein with impaired function, which slows the clotting process. The severity of bleeding symptoms does not always correlate with the amount of factor XI in the bloodstream, suggesting that other genetic and environmental factors influence the condition.
Other Names for This Gene
- coagulation factor XI preproprotein
- FXI
- plasma thromboplastin antecedent
- PTA
