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Defective binding of VWF variant to GPIb:IX:V

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-9846298

PubChem

R-HSA-9846298

Description

This Reactome event describes von Willebrand disease (VWD)-associated missense mutations in the A1 domain of VWF, namely VWF S1358N, S1387I, S1394F and Q1402P, that compromise the clot formation due to reduced binding to GPIb (Larsen DM et al., 2013).

Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.

SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying **all 7** entries
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
P02452	Collagen alpha-1(I) chain	COL1A1	view
P04275	von Willebrand factor	F8VWF VWF	view
P07359	Platelet glycoprotein Ib alpha chain	GP1BA	view
P08123	Collagen alpha-2(I) chain	COL1A2	view
P13224	Platelet glycoprotein Ib beta chain	GP1BB	view
P14770	Platelet glycoprotein IX	GP9	view
P40197	Platelet glycoprotein V	GP5	view

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