F7 gene
The F7 gene provides instructions for making coagulation factor VII, a protein that plays a critical role in the coagulation system to form blood clots after injury.
Normal Function
The F7 gene provides instructions for making a protein called coagulation factor VII. Coagulation factors are a group of related proteins involved in the coagulation system, a series of chemical reactions that form blood clots. After an injury, clots seal off blood vessels to stop bleeding and trigger blood vessel repair.
Coagulation factor VII is made primarily by cells in the liver. The protein circulates in the bloodstream in an inactive form until the coagulation system is turned on (activated) by an injury that damages blood vessels. Activated coagulation factor VII helps turn on other coagulation factors in turn. This step-wise process ultimately promotes the conversion of an important coagulation protein called fibrinogen into fibrin, which is the material that forms blood clots.
Health Conditions Related to Genetic Changes
Factor VII deficiency
Almost 300 mutations in the F7 gene have been found to cause a rare bleeding disorder called factor VII deficiency. This disorder commonly causes:
- Nosebleeds
- Easy bruising
- Bleeding of the gums
- Prolonged or excessive bleeding following surgery or physical injury
In severe cases, life-threatening episodes of bleeding inside the skull or gastrointestinal tract can occur. The F7 gene mutations involved in this condition reduce the amount of coagulation factor VII in the bloodstream. A shortage of coagulation factor VII prevents blood from clotting normally, causing episodes of abnormal bleeding that can be severe.