PRRG1
The PRRG1 Gene: A Key Player in Human Health
Description
The PRRG1 gene, also known as proline-rich Gla (gamma-carboxyglutamic acid) protein 1, is located on chromosome 19q13.33. It encodes a protein called prothrombinase gamma subunit, which plays a crucial role in the coagulation cascade, the intricate process that prevents excessive bleeding after injury.
The PRRG1 protein is a cofactor that interacts with other clotting factors, such as thrombin and Factor Xa, to convert prothrombin to thrombin. Thrombin, in turn, activates fibrinogen, which forms a mesh-like structure called a blood clot.
Associated Diseases
Mutations in the PRRG1 gene can disrupt the coagulation cascade, leading to bleeding disorders. These disorders can range from mild to severe, depending on the nature of the mutation.
- Hypoprothrombinemia type 2: Characterized by a deficiency of prothrombinase, resulting in prolonged bleeding times.
- Factor XIII deficiency: A rare disorder caused by mutations in both copies of the PRRG1 gene, leading to impaired blood clot formation.
- Thrombophilia: An increased risk of blood clots, which can be inherited or acquired. Mutations in the PRRG1 gene can contribute to this condition.
Did you Know ?
According to a study published in the journal Blood, approximately 0.1% of the general population carries a mutation in the PRRG1 gene, making it one of the most common genetic causes of bleeding disorders.
