Preferred Label : von Willebrand Factor;
NCIt synonyms : vWFAg; Factor VIII Related Antigen; von Willebrand Factor Antigen; vWF; Coagulation Factor VIII VWF; Factor VIII-von Willebrand Factor;
NCIt definition : von Willebrand factor (2813 aa, 309 kDa) is encoded by the human VWF gene. This protein
is involved in platelet adhesion and blood coagulation.;
NCIt note : Important in the maintenance of homeostasis, multimeric Factor VIII Related Antigen
participates in platelet-vessel wall interactions by forming a non-covalent complex
with coagulation factor VIII at sites of vascular injury, creating a surface to which
platelets adhere. Plasma factor VIII related protein is a large glycoprotein component,
synthesized by endothelial cells and megakaryocytes, that circulates in the plasma
complexed with factor VIII. VWF contains three A domains, three C domains, four D
domains, and one C-terminal cysteine knot-like domain. All cysteine residues of von
Willebrand factor are involved in intrachain or interchain disulfide bonds. Defects
in F8VWF are associated with various forms (types I-III) of von Willebrand disease
(VWD). There are subtypes of type II VWD (A to H); type IIA is characterized by the
absence of F8VWF multimers in plasma.; Human von Willebrand factor, a 270 kD multimeric plasma glycoprotein, has functional
binding domains to platelet glycoprotein Ib, glycoprotein Iib/IIIa, collagen and heparin.
It mediates platelet adhesion to injured vessel walls and serves as a carrier and
stabiliser for coagulation factor VIII. It is expressed in endothelial cells, platelets,
megakaryocytes and a number of tumors.;
NCI Metathesaurus CUI : CL1770518;
Origin ID : C16572;
UMLS CUI : C0795677;
Currated CISMeF NLP mapping
- False automatic mappings
- OMIM relation
- Semantic type(s)
- Validated automatic mappings to BTNT
- concept_is_in_subset
- gene_encodes_gene_product
- gene_product_expressed_in_tissue
- gene_product_has_associated_anatomy
- gene_product_has_chemical_classification
- gene_product_has_structural_domain_or_motif
- gene_product_is_biomarker_of
- gene_product_is_biomarker_type
- gene_product_is_element_in_pathway
- gene_product_plays_role_in_biological_process
- is_target
