P2RY11
The p2ry11 Gene: A Gateway to Understanding Platelet Function and Beyond
Description
The p2ry11 gene encodes a G-protein coupled receptor (GPCR) known as purinergic receptor P2Y11. This receptor is primarily expressed on the surface of platelets, where it plays a crucial role in platelet activation and aggregation. P2Y11 binds to adenosine diphosphate (ADP), a molecule released from damaged blood vessels and platelets during clotting. ADP binding triggers a cascade of intracellular signaling events that result in platelet activation and aggregation, leading to the formation of a clot and the prevention of excessive bleeding.
Associated Diseases
Mutations in the p2ry11 gene have been linked to several bleeding disorders, including:
- Congenital platelet function disorders: These rare bleeding disorders are characterized by an inability of platelets to aggregate properly, leading to excessive bleeding. Mutations in the p2ry11 gene can cause a type of congenital platelet function disorder known as Glanzmann thrombasthenia type 3.
- Acquired platelet function disorders: Some autoimmune diseases and certain medications can lead to acquired platelet function disorders, where platelets become less responsive to ADP. These disorders can increase the risk of bleeding. Mutations in the p2ry11 gene have been implicated in some cases of acquired platelet function disorders.
- Venous thromboembolism: Paradoxically, some studies suggest that certain p2ry11 gene variants may be associated with an increased risk of venous thromboembolism, a condition in which blood clots form in the veins, potentially leading to deep vein thrombosis or pulmonary embolism.
Did you Know ?
Approximately 1 in 100,000 people worldwide is affected by congenital platelet function disorders caused by mutations in the p2ry11 gene.
