The protein encoded byThis 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 inThis gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]
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Function:
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.,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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Cellular Localization:
Membrane; Single-pass type I membrane protein.
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Tissue Expression:
Expressed in natural killer cells (at protein level).