Scientific background: |
Coagulation Factor VIII (FVIII) is an essential blood-clotting protein, also known as anti-hemophilic factor (AHF). By in situ hybridization, Tantravahi et al. (1986) concluded that the F8 gene is located in the proximal part of chromosome Xq28 with probes DX13 and St14 distally located. The F8 gene encodes coagulation factor VIII, a large plasma glycoprotein that functions in the blood coagulation cascade as a cofactor for the factor IXa-dependent activation of factor X (F10). Factor VIII is activated proteolytically by a variety of coagulation enzymes, including thrombin (F2). Factor VIII is tightly associated in the blood with von Willebrand factor (VWF), which serves as a protective carrier protein for factor VIII (Toole et al., 1984; Hoyer, 1994). |
References: |
1. Hoyer, L. W. Hemophilia A. New Eng. J. Med. 330: 38-45, 1994.
2. Tantravahi, U., Murty, V. V. V. S., Jhanwar, S. C., Toole, J. J., Woozney, J. M., Chaganti, R. S. K., Latt, S. A. Physical mapping of the factor VIII gene proximal to two polymorphic DNA probes in human chromosome band Xq28: implications for factor VIII gene segregation analysis. Cytogenet. Cell Genet. 42: 75-79, 1986.
3. Toole, J. J., Knopf, J. L., Wozney, J. M., Sultzman, L. A., Buecker, J. L., Pittman, D. D., Kaufman, R. J., Brown, E., Shoemaker, C., Orr, E. C., Amphlett, G. W., Foster, W. B., Coe, M. L., Knutson, G. J., Fass, D. N., Hewick, R. M. Molecular cloning of a cDNA encoding human antihaemophilic factor. Nature 312: 342-347, 1984. |