Defective binding of VWF variant to GPIb:IX:V

Stable Identifier
R-HSA-9846298
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Defective binding of VWF variant to GPIb:IX:V
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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).
Literature References
PubMed ID Title Journal Year
23496210 Variability in platelet- and collagen-binding defects in type 2M von Willebrand disease

Shapiro, AD, Larsen, DM, Flood, VH, Gill, JC, Haberichter, SL

Haemophilia 2013
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
blood platelet disease DOID:2218 platelet disorder, Thrombocytopathy
Authored
Shamovsky, V  (2023-01-07)
Reviewed
Gao, R  (2023-11-06)
Created
Shamovsky, V  (2023-10-10)
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