Gene Symbol | THBD |
Entrez Gene ID | 7056 |
Full Name | thrombomodulin |
Synonyms | AHUS6,BDCA3,CD141,THPH12,THRM,TM |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Thrombophilia due to thrombomodulin defect, 614486 (3); {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926 (3) |