The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]
Thrombomodulin is a specific endothelial cell receptor that forms a 1:1 stoichiometric complex with thrombin. This complex is responsible for the conversion of protein C to the activated protein C (protein Ca). Once evolved, protein Ca scissions the activated cofactors of the coagulation mechanism, factor Va and factor VIIIa, and thereby reduces the amount of thrombin generated.
Covered on Genetics Home Reference:
From NCBI Gene:
- Atypical hemolytic-uremic syndrome 6
- Thrombophilia due to thrombomodulin defect
Thrombophilia due to thrombomodulin defect (THPH12): A hemostatic disorder characterized by a tendency to thrombosis. [MIM:614486]
Hemolytic uremic syndrome atypical 6 (AHUS6): An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. [MIM:612926]