Factor VIII è un gene codificato dal simbolo F8. Altri nomi includono: Coagulation Antihemophilic factor; AHF; Procoagulant component; F8; F8C. Factor VIII ha una massa di 267.01kDa, una lunghezza di amminoacidi di 2351, ed è implicato in Hemophilia A.
Offriamo 12 anticorpi contro Factor VIII, allevati nel Coniglio, Topo e Human, che sono adatti per WB, ELISA, IP e RIA con campioni derivati da Umano e Maiale.
Informazioni su geni e proteine
Riepilogo UniProt
Factor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa.
Sommario di Entrez
This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder.
Coinvolgimento nella malattia
Hemophilia A: A disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery.
Somiglianze di sequenza
Belongs to the multicopper oxidase family.
Modifica post-translazionale
Sulfation on Tyr-1699 is essential for binding vWF.
Posizione cellulare
Secreted > Extracellular space.
