Journal article
A 23bp Insertion in the Endothelial Protein C Receptor (EPCR) Gene Impairs EPCR Function
Abstract
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 and the cytoplasmic tail. …
Authors
Biguzzi E; Merati G; Liaw PC; Bucciarelli P; Oganesyan N; Qu D; Gu JM; Fetiveau R; Esmon CT; Mannucci PM
Journal
Thrombosis and Haemostasis, Vol. 86, No. 04, pp. 945–948
Publisher
Thieme
Publication Date
2001
DOI
10.1055/s-0037-1616515
ISSN
0340-6245
Fields of Research (FoR)
Medical Subject Headings (MeSH)
AdultAge of OnsetAnimalsBlood Coagulation FactorsCell MembraneCells, CulturedDNA Mutational AnalysisEndothelium, VascularEnzyme ActivationExonsFemaleGene FrequencyGenetic Predisposition to DiseaseGlycosylationHumansItalyMaleMiddle AgedMolecular WeightMutagenesis, InsertionalMyocardial InfarctionPilot ProjectsProtein BindingProtein CProtein ConformationProtein Processing, Post-TranslationalProtein Structure, TertiaryProtein TransportReceptors, Cell SurfaceRisk FactorsStructure-Activity RelationshipThrombophiliaVenous Thrombosis