Factor VIII est un gène codé par le symbole F8. D'autres noms incluent: Coagulation Antihemophilic factor; AHF; Procoagulant component; F8; F8C. Factor VIII a une masse de 267.01kDa, une longueur d'acide aminé de 2351, et est impliqué dans Hemophilia A.
Nous proposons 12 des anticorps contre Factor VIII, élevé dans Lapin et Souris, qui sont appropriés pour le WB, ELISA, IP et RIA avec des échantillons dérivés de Humain et Porcin.
Informations sur les Gènes et les Protéines
Résumé 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.
Résumé 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.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the multicopper oxidase family.
Modification post-traductionnelle
Sulfation on Tyr-1699 is essential for binding vWF.
Localisation cellulaire
Secreted > Extracellular space.
