Description

The product of the P2RY12 gene belongs to the family of G-protein coupled receptors. This receptor is involved in platelet aggregation, and is is the target of efficacious antithrombotic agents (Hollopeter et al., 2001). Mutations in this gene are implicated in bleeding disorder, platelet type 8 (BDPLT8), a condition characterized by mild to moderate mucocutaneous bleeding, and excessive bleeding after surgery or trauma. The defect is due to severe impairment of platelet response to ADP resulting in defective platelet aggregation (Cattaneo et al., 2003).

External Information

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