Von Willebrand Factor (vWF)

F8VWF; VWD; von Willebrand antigen 2

SPN	V978
HGNC	12726
MGI	98941
PubMed	9759493
RGD	621759
UniProt	P04275
Wiki	VWF

Von Willebrand factor (vWF) is a blood glycoprotein involved in hemostasis. It is deficient or defective in von Willebrand disease and is involved in a large number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome.
It is a large multimeric glycoprotein present in blood plasma and produced constitutively in endothelium (in the Weibel-Palade bodies), megakaryocytes (α-granules of platelets), and subendothelial connective tissue.
Besides, it is not an enzyme and therefore has no catalytic activity. Its primary function is binding to other proteins, particularly Factor VIII and it is important in platelet adhesion to wound sites.
 

Reference

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"The finished DNA sequence of human chromosome 12."
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"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
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"Full-length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit."
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Erratum
EMBO J. 5:3074-3074(1986)

"The human von Willebrand factor gene. Structure of the 5' region."
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"Evolution of human von Willebrand factor: cDNA sequence polymorphisms, repeated domains, and relationship to von Willebrand antigen II."
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"Amino acid sequence of human von Willebrand factor."
Biochemistry 25:3171-3184(1986) [PubMed] [Europe PMC] [Abstract]

"Cloning and characterization of two cDNAs coding for human von Willebrand factor."
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"Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides."
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"cDNA sequences for human von Willebrand factor reveal five types of repeated domains and five possible protein sequence polymorphisms."
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"Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction."
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Blood 90:4425-4437(1997) [PubMed] [Europe PMC] [Abstract]

"Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization."
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Nucleic Acids Res. 13:4699-4717(1985) [PubMed] [Europe PMC] [Abstract]

"Molecular cloning of the human gene for von Willebrand factor and identification of the transcription initiation site."
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"Identification of disulfide-bridged substructures within human von Willebrand factor."
Biochemistry 26:8099-8109(1987) [PubMed] [Europe PMC] [Abstract]

"Primary structure of a new tetraantennary glycan of the N-acetyllactosaminic type isolated from human factor VIII/von Willebrand factor."
Eur. J. Biochem. 158:295-298(1986) [PubMed] [Europe PMC] [Abstract]

"The acidic region of the factor VIII light chain and the C2 domain together form the high affinity binding site for von Willebrand factor."
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"Screening for N-glycosylated proteins by liquid chromatography mass spectrometry."
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"The von Willebrand factor A3 domain does not contain a metal ion-dependent adhesion site motif."
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"von Willebrand factor, platelets and endothelial cell interactions."
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"Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr)."
Am. J. Hum. Genet. 48:757-763(1991) [PubMed] [Europe PMC] [Abstract]

"Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease."
Br. J. Haematol. 78:506-514(1991) [PubMed] [Europe PMC] [Abstract]

"An Arg545-->Cys545 substitution mutation of the von Willebrand factor in type IIB von Willebrand's disease."
Eur. J. Haematol. 47:342-345(1991) [PubMed] [Europe PMC] [Abstract]

"Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences."
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"The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain."
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"Expression of von Willebrand factor 'Normandy': an autosomal mutation that mimics hemophilia A."
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"Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease."
Am. J. Hum. Genet. 50:199-207(1992) [PubMed] [Europe PMC] [Abstract]

"Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB."
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"Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden."
Br. J. Haematol. 82:58-65(1992) [PubMed] [Europe PMC] [Abstract]

"Defects in type IIA von Willebrand disease: a cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX."
Br. J. Haematol. 82:66-72(1992) [PubMed] [Europe PMC] [Abstract]

"Characterization of recombinant von Willebrand factor corresponding to mutations in type IIA and type IIB von Willebrand disease."
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"von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib."
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"Identification of three candidate mutations causing type IIA von Willebrand disease using a rapid, nonradioactive, allele-specific hybridization method."
Blood 82:830-836(1993) [PubMed] [Europe PMC] [Abstract]

"Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease."
Br. J. Haematol. 83:94-99(1993) [PubMed] [Europe PMC] [Abstract]

"Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg) and one polymorphism (Tyr821-->Cys) in the A2 region of the von Willebrand factor."
Eur. J. Haematol. 51:38-44(1993) [PubMed] [Europe PMC] [Abstract]

"Type IIB mutation His-505-->Asp implicates a new segment in the control of von Willebrand factor binding to platelet glycoprotein Ib."
J. Biol. Chem. 268:20497-20501(1993) [PubMed] [Europe PMC] [Abstract]

"von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure."
J. Clin. Invest. 91:2169-2177(1993) [PubMed] [Europe PMC] [Abstract]

"Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease."
Blood 83:1542-1550(1994) [PubMed] [Europe PMC] [Abstract]

"Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations."
Blood 83:1551-1557(1994) [PubMed] [Europe PMC] [Abstract]

"Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin."
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"Genetic heterogeneity of severe von Willebrand disease type III in the German population."
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"Investigation of type IIC von Willebrand disease."
Int. J. Hematol. 59:219-225(1994) [PubMed] [Europe PMC] [Abstract]

"Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF."
Blood 86:1010-1018(1995) [PubMed] [Europe PMC] [Abstract]

"A novel candidate mutation (Arg611-->His) in type I 'platelet discordant' von Willebrand's disease with desmopressin-induced thrombocytopenia."
Br. J. Haematol. 89:656-658(1995) [PubMed] [Europe PMC] [Abstract]

"Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor."
Br. J. Haematol. 91:983-990(1995) [PubMed] [Europe PMC] [Abstract]

"Identification of a candidate missense mutation in a family with von Willebrand disease type IIC."
Hum. Genet. 95:681-686(1995) [PubMed] [Europe PMC] [Abstract]

"Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease."
Proc. Natl. Acad. Sci. U.S.A. 93:3581-3586(1996) [PubMed] [Europe PMC] [Abstract]

"A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion."
Blood 96:560-568(2000) [PubMed] [Europe PMC] [Abstract]

"Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins."
Blood 98:2973-2979(2001) [PubMed] [Europe PMC] [Abstract]

"Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A."
Br. J. Haematol. 119:390-392(2002) [PubMed] [Europe PMC] [Abstract]

"The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype."
Br. J. Haematol. 128:830-836(2005) [PubMed] [Europe PMC] [Abstract]

"The consensus coding sequences of human breast and colorectal cancers."
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]

"C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance."
Haemophilia 18:112-116(2012) [PubMed] [Europe PMC] [Abstract]