Article
A 23bp insertion in the endothelial protein C receptor (EPCR) gene impairs EPCR function.
Thrombosis and haemostasis - 1 Oct 2001
Biguzzi E, Merati G, Liaw P C, Bucciarelli P, Oganesyan N, Qu D, Gu J M, Fetiveau R, Esmon C T, Mannucci P M, Faioni E M
Abstract excerpt
EPCR is a type I transmembrane protein, highly expressed on the endothelium of large vessels, that binds protein C and augments its activation. In this study, a 23bp insertion in the EPCR gene was found in 4/198 survivors of myocardial infarction and 3/194 patients with deep vein thrombosis. The EPCR gene with the insertion predicts a protein that lacks part of the extracellular domain, the transmembrane domain...
Topics
- Adult
- Age of Onset
- Animals
- Blood Coagulation Factors
- Cell Membrane
- Cells, Cultured
- DNA Mutational Analysis
- Endothelium, Vascular
- Enzyme Activation
- Exons
- Female