PAI-1 is an inhibitor of plasminogen activator and plays an important role in the regulation of blood coagulation. Mutations in the PAI-1 gene can lead to increased levels of this protein and excessive activation of blood clotting. As a result, the risk of blood clots increases, which can lead to serious medical problems, such as deep vein thrombosis and pulmonary embolism. PAI-1 mutation is inherited in an autosomal dominant manner and can be homozygous or heterozygous.
