|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:Factor_VIII-related_antigen
VWF antigen
ristocetin cofactor
|
|
gptkbp:associatedWith
|
gptkb:von_Willebrand_disease
|
|
gptkbp:binds
|
gptkb:platelet_glycoprotein_Ib
collagen
factor VIII
|
|
gptkbp:cleavage
|
ADAMTS13
|
|
gptkbp:clinicalTrialPhase
|
VWF antigen assay
ristocetin cofactor activity
VWF multimer analysis
|
|
gptkbp:deficiencyCauses
|
bleeding disorder
|
|
gptkbp:degradedBy
|
ADAMTS13
|
|
gptkbp:discoveredBy
|
Erik von Willebrand
|
|
gptkbp:encodedBy
|
gptkb:VWF_gene
|
|
gptkbp:Entrez_Gene_ID
|
7450
|
|
gptkbp:expressedIn
|
platelets
vascular endothelium
|
|
gptkbp:firstDescribed
|
1926
|
|
gptkbp:foundIn
|
human plasma
|
|
gptkbp:fullName
|
gptkb:von_Willebrand_factor
|
|
gptkbp:function
|
binds to factor VIII
mediates platelet adhesion
|
|
gptkbp:glycosylation
|
heavily glycosylated
|
|
gptkbp:halfLife
|
~12 hours
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
VWF
|
|
gptkbp:inheritance
|
autosomal dominant
autosomal recessive
|
|
gptkbp:involvedIn
|
secondary hemostasis
primary hemostasis
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_12p13.3
|
|
gptkbp:molecularWeight
|
~270 kDa (monomer)
|
|
gptkbp:mutationAssociatedWith
|
gptkb:von_Willebrand_disease
missense, nonsense, frameshift, splice site
|
|
gptkbp:namedAfter
|
Erik von Willebrand
|
|
gptkbp:OMIM
|
613160
|
|
gptkbp:presentIn
|
gptkb:megakaryocytes
endothelial cells
|
|
gptkbp:role
|
hemostasis
platelet plug formation
stabilization of factor VIII
|
|
gptkbp:storage
|
gptkb:Weibel-Palade_bodies
platelet alpha granules
|
|
gptkbp:structure
|
multimeric glycoprotein
|
|
gptkbp:subunit
|
monomer forms multimers
|
|
gptkbp:synthesisType
|
gptkb:megakaryocytes
endothelial cells
|
|
gptkbp:UniProtID
|
P04275
|
|
gptkbp:bfsParent
|
gptkb:Von_Willebrand_factor
|
|
gptkbp:bfsLayer
|
6
|