Title : Functional variation in the arginine vasopressin 2 receptor as a modifier of human plasma von Willebrand factor levels.

Pub. Date : 2010 Jul

PMID : 20403097






3 Functional Relationships(s)
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1 Rare alleles of a-245c, G12E, and S331S, which were in linkage disequilibrium, were associated with higher VWF propeptide, VWF and FVIII levels. propeptide von Willebrand factor Homo sapiens
2 The binding affinity of V2R for AVP was increased three-fold in 12E-V2R-green fluorescent protein (GFP) cells, which is in accordance with increased levels of VWF propeptide associated with the 12E variant. propeptide von Willebrand factor Homo sapiens
3 CONCLUSIONS: The 12E-V2R variant has increased binding affinity for AVP, resulting in increased signal transduction, and is associated with increased levels of VWF propeptide, VWF, and FVIII. propeptide von Willebrand factor Homo sapiens