Aliases for THBD Gene
External Ids for THBD Gene
Previous GeneCards Identifiers for THBD 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]
GeneCards Summary for THBD Gene
THBD (Thrombomodulin) is a Protein Coding gene. Diseases associated with THBD include Thrombophilia Due To Thrombomodulin Defect and Hemolytic Uremic Syndrome, Atypical 6. Among its related pathways are Collagen biosynthesis and modifying enzymes and AGE-RAGE signaling pathway in diabetic complications. GO annotations related to this gene include calcium ion binding and transmembrane signaling receptor activity. An important paralog of this gene is CD93.
UniProtKB/Swiss-Prot for THBD Gene
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.