Thrombomodulin ist ein Gen, das durch das Symbol THBD kodiert wird. Es ist auch bekannt als: TM; Fetomodulin; THBD; THRM. Thrombomodulin hat eine Masse von 60.33kDa, eine Aminosäurelänge von 575, und ist an folgenden Krankheiten beteiligt: Thrombophilia due to thrombomodulin defect; Hemolytic uremic syndrome atypical 6.
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Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Gewebespezifität
Endothelial cells are unique in synthesizing thrombomodulin.
Rolle bei Krankheiten
Thrombophilia due to thrombomodulin defect: A hemostatic disorder characterized by a tendency to thrombosis.
Hemolytic uremic syndrome atypical 6: 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.
Posttranslationale Modifikation
N-glycosylated.
