Reactome | Defective F8 binding to von Willebrand factor

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Defective F8 binding to von Willebrand factor Show undefined attributes

authored	[InstanceEdit:9660568] Shamovsky, Veronica, 2019-09-09
compartment	[Compartment:984] extracellular region
created	[InstanceEdit:9672398] Shamovsky, Veronica, 2019-12-25
crossReference	[DatabaseIdentifier:12819645] BioModels Database:BIOMD0000000336 [DatabaseIdentifier:12020814] Mondo:0010602 [DatabaseIdentifier:12819549] BioModels Database:BIOMD0000000338 [DatabaseIdentifier:12819551] BioModels Database:BIOMD0000000340 [DatabaseIdentifier:12819555] BioModels Database:BIOMD0000000335 [DatabaseIdentifier:12819557] BioModels Database:BIOMD0000000951 [DatabaseIdentifier:12819559] BioModels Database:BIOMD0000000339
dbId	9672393
disease	[Disease:9661959] factor VIII deficiency
displayName	Defective F8 binding to von Willebrand factor
edited	[InstanceEdit:9690131] Shamovsky, Veronica, 2020-05-26
eventOf	[Pathway:R-HSA-9662001] Defective factor VIII causes hemophilia A - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-9665809] F8 variant does not bind von Willebrand factor - Homo sapiens
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	2
modified	[InstanceEdit:12819426] Weiser, Joel, 2026-02-23
name	Defective F8 binding to von Willebrand factor
normalPathway	[Pathway:R-HSA-9769740] Coagulation pathway
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	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-9672393
summation	[Summation:9672392] Upon secretion from the cell, FVIII circulates in a tight co...

Referrals

(hasEvent)

[Pathway:R-HSA-9662001] Defective factor VIII causes hemophilia A