Thrombomodulin
Thrombomodulin is a glycoprotein located on the surface of endothelial cells. When binding to thrombin it changes the specifity of the protease towards activiting of anticoagulants such as protein C. Mutations of the gene heve been seen in thrombophilia and atypical hemolytic uremic syndrome.
Genetests:
Related Diseases:
References:
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Le Flem L et al. (1999) Mutations in promoter region of thrombomodulin and venous thromboembolic disease.
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Kunz G et al. (2000) Identification and characterization of a thrombomodulin gene mutation coding for an elongated protein with reduced expression in a kindred with myocardial infarction.
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Faioni EM et al. (2002) Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia.
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Ohlin AK et al. (1995) The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease.
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Doggen CJ et al. (1998) A mutation in the thrombomodulin gene, 127G to A coding for Ala25Thr, and the risk of myocardial infarction in men.
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6. |
NCBI article
NCBI 7056
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7. |
OMIM.ORG article
Omim 188040
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8. |
Orphanet article
Orphanet ID 120088
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9. |
Wikipedia article
Wikipedia EN (Thrombomodulin)
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Update: Aug. 14, 2020