Thrombomodulin est un gène codé par le symbole THBD. Il est également connu sous le nom de: TM; Fetomodulin; THBD; THRM. Thrombomodulin a une masse de 60.33kDa, une longueur d'acide aminé de 575, et est impliqué dans les maladies: Thrombophilia due to thrombomodulin defect; Hemolytic uremic syndrome atypical 6.
Nous proposons 16 Thrombomodulin kits ELISA pour la détection qualitative ou quantitative de Thrombomodulin à partir d'échantillons Humain, Souris, Rat, Porcin, Lapin et Canin.
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
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.
Spécificité tissulaire
Endothelial cells are unique in synthesizing thrombomodulin.
Implication dans la maladie
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.
Modification post-traductionnelle
N-glycosylated.
Localisation cellulaire
Membrane.
