Disease:Defects in THBD are the cause of thrombophilia due to thrombomodulin defect (THR-THBDD) [MIM:188040]. THR-THBDD is a hemostatic disorder characterized by a tendency to thrombosis. ,Function: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. ,online information:Thrombomodulin ,online information:Thrombomodulin entry ,PTM:N-glycosylated. ,PTM:The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. ,similarity:Contains 1 C-type lectin domain. ,similarity:Contains 6 EGF-like domains. ,tissue specificity:Endothelial cells are unique in synthesizing thrombomodulin. ,
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