Reactome | F8 variant does not bind von Willebrand factor

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F8 variant does not bind von Willebrand factor Show undefined attributes

authored	[InstanceEdit:9660568] Shamovsky, Veronica, 2019-09-09
category	transition
compartment	[Compartment:984] extracellular region
created	[InstanceEdit:9665826] Shamovsky, Veronica, 2019-11-01
crossReference	[DatabaseIdentifier:12020814] Mondo:0010602
dbId	9665809
disease	[Disease:9661959] factor VIII deficiency
displayName	F8 variant does not bind von Willebrand factor
edited	[InstanceEdit:9690131] Shamovsky, Veronica, 2020-05-26
entityFunctionalStatus	[EntityFunctionalStatus:9665811] loss_of_function of F8 variant [extracellular region]
eventOf	[Pathway:R-HSA-9672393] Defective F8 binding to von Willebrand factor - Homo sapiens
input	[Complex:R-HSA-9665818] F8 C1,C2 domains variants [extracellular region] [Complex:R-HSA-158136] VWF multimer [extracellular region]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9665800] Deletion of alanine 2201 in the FVIII C2 domain results in mild hemophilia A by impairing FVIII binding to VWF and phospholipids and destroys a major FVIII antigenic determinant involved in inhibitor development [LiteratureReference:9665814] Storage of factor VIII variants with impaired von Willebrand factor binding in Weibel-Palade bodies in endothelial cells [LiteratureReference:9662340] A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor [LiteratureReference:9665821] Surface-exposed hemophilic mutations across the factor VIII C2 domain have variable effects on stability and binding activities
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	F8 variant does not bind von Willebrand factor
normalReaction	[Reaction:R-HSA-158118] factor VIII + von Willebrand factor multimer -> factor VIII:von Willibrand factor multimer
releaseDate	2020-06-10
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9673821] D'Eustachio, Peter, 2020-01-09 [InstanceEdit:9681505] Zhang, Bin, 2020-04-02
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-9665809
summation	[Summation:9665830] Coagulation factor VIII (FVIII) encoded by the F8 gene is sy...

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(hasEvent)

[Pathway:R-HSA-9672393] Defective F8 binding to von Willebrand factor

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