Gene Review:
F9 - coagulation factor IX
Homo sapiens
Synonyms:
Christmas factor, Coagulation factor IX, FIX, HEMB, P19, ...
- Mutations in the factor IX gene (F9) during the past 150 years have relative rates similar to ancient mutations. Feng, J., Drost, J.B., Scaringe, W.A., Liu, Q., Sommer, S.S. Hum. Mutat. (2002)
- Linkage analysis of bipolar illness with X-chromosome DNA markers: a susceptibility gene in Xq27-q28 cannot be excluded. De bruyn, A., Raeymaekers, P., Mendelbaum, K., Sandkuijl, L.A., Raes, G., Delvenne, V., Hirsch, D., Staner, L., Mendlewicz, J., Van Broeckhoven, C. Am. J. Med. Genet. (1994)
- Sequence analysis of a Molluscum contagiosum virus DNA region which includes the gene encoding protein kinase 2 and other genes with unique organization. Martin-Gallardo, A., Moratilla, M., Funes, J.M., Agromayor, M., Nuñez, A., Varas, A.J., Collado, M., Valencia, A., Lopez-Estebaranz, J.L., Esteban, M. Virus Genes (1996)
- Therapeutic levels of human factor VIII and IX using HIV-1-based lentiviral vectors in mouse liver. Park, F., Ohashi, K., Kay, M.A. Blood (2000)
- Active gamma-carboxylated human factor IX expressed using recombinant DNA techniques. de la Salle, H., Altenburger, W., Elkaim, R., Dott, K., Dieterlé, A., Drillien, R., Cazenave, J.P., Tolstoshev, P., Lecocq, J.P. Nature (1985)
- Novel therapeutic approach for hemophilia using gene delivery of an engineered secreted activated Factor VII. Margaritis, P., Arruda, V.R., Aljamali, M., Camire, R.M., Schlachterman, A., High, K.A. J. Clin. Invest. (2004)
- Purification and characterization of an abnormal factor IX (Christmas factor) molecule. Factor IX Chapel Hill. Chung, K.S., Madar, D.A., Goldsmith, J.C., Kingdon, H.S., Roberts, H.R. J. Clin. Invest. (1978)
- Polymorphic DNA marker on X chromosome and manic depression. Mendlewicz, J., Simon, P., Sevy, S., Charon, F., Brocas, H., Legros, S., Vassart, G. Lancet (1987)
- Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency. Akhavan, S., Mannucci, P.M., Lak, M., Mancuso, G., Mazzucconi, M.G., Rocino, A., Jenkins, P.V., Perkins, S.J. Thromb. Haemost. (2000)
- Crystal matrix protein--getting blood out of a stone. Stapleton, A.M., Ryall, R.L. Mineral and electrolyte metabolism. (1994)
- Anticoagulant-induced pseudothrombocytopenia occurring after transcatheter arterial embolization for hepatocellular carcinoma. Yoshikawa, T., Nakanishi, K., Maruta, T., Takenaka, D., Hirota, S., Matsumoto, S., Saigo, K., Ohno, Y., Fujii, M., Sugimura, K. Jpn. J. Clin. Oncol. (2006)
- Activation of human factor IX (Christmas factor). Di Scipio, R.G., Kurachi, K., Davie, E.W. J. Clin. Invest. (1978)
- Isolation and characterization of a cDNA coding for human factor IX. Kurachi, K., Davie, E.W. Proc. Natl. Acad. Sci. U.S.A. (1982)
- Self-complementary adeno-associated virus vectors containing a novel liver-specific human factor IX expression cassette enable highly efficient transduction of murine and nonhuman primate liver. Nathwani, A.C., Gray, J.T., Ng, C.Y., Zhou, J., Spence, Y., Waddington, S.N., Tuddenham, E.G., Kemball-Cook, G., McIntosh, J., Boon-Spijker, M., Mertens, K., Davidoff, A.M. Blood (2006)
- Identification of the phospholipid binding site in the vitamin K-dependent blood coagulation protein factor IX. Freedman, S.J., Blostein, M.D., Baleja, J.D., Jacobs, M., Furie, B.C., Furie, B. J. Biol. Chem. (1996)
- Circulating and binding characteristics of wild-type factor IX and certain Gla domain mutants in vivo. Gui, T., Lin, H.F., Jin, D.Y., Hoffman, M., Straight, D.L., Roberts, H.R., Stafford, D.W. Blood (2002)
- Coexpression of factor VIII heavy and light chain adeno-associated viral vectors produces biologically active protein. Burton, M., Nakai, H., Colosi, P., Cunningham, J., Mitchell, R., Couto, L. Proc. Natl. Acad. Sci. U.S.A. (1999)
- Tissue factor positions and maintains the factor VIIa active site far above the membrane surface even in the absence of the factor VIIa Gla domain. A fluorescence resonance energy transfer study. McCallum, C.D., Su, B., Neuenschwander, P.F., Morrissey, J.H., Johnson, A.E. J. Biol. Chem. (1997)
- Growth regulation of the human papillary thyroid cancer cell line by protein tyrosine kinase and cAMP-dependent protein kinase. Hishinuma, A., Yamanaka, T., Kasai, K., So, S., Bamba, N., Shimoda, S.I. Endocr. J. (1994)
- Factor VIIa binding and internalization in hepatocytes. Hjortoe, G., Sorensen, B.B., Petersen, L.C., Rao, L.V. J. Thromb. Haemost. (2005)
- Crystal structure of the calcium-stabilized human factor IX Gla domain bound to a conformation-specific anti-factor IX antibody. Huang, M., Furie, B.C., Furie, B. J. Biol. Chem. (2004)
- The factor IX gamma-carboxyglutamic acid (Gla) domain is involved in interactions between factor IX and factor XIa. Aktimur, A., Gabriel, M.A., Gailani, D., Toomey, J.R. J. Biol. Chem. (2003)
- Characterization of factor VII association with tissue factor in solution. High and low affinity calcium binding sites in factor VII contribute to functionally distinct interactions. Ruf, W., Kalnik, M.W., Lund-Hansen, T., Edgington, T.S. J. Biol. Chem. (1991)
- Role of the Gla and first epidermal growth factor-like domains of factor X in the prothrombinase and tissue factor-factor VIIa complexes. Thiec, F., Cherel, G., Christophe, O.D. J. Biol. Chem. (2003)
- The role of catalytic cleft and exosite residues of factor VIIa for complex formation with tissue factor pathway inhibitor. Iakhiaev, A., Ruf, W., Rao, L.V. Thromb. Haemost. (2001)
- Molecular recognition in the protein C anticoagulant pathway. Dahlbäck, B., Villoutreix, B.O. J. Thromb. Haemost. (2003)
- Characterization of functionally important domains in human vitamin K-dependent protein S using monoclonal antibodies. Dahlbäck, B., Hildebrand, B., Malm, J. J. Biol. Chem. (1990)
- Synthesis and characterization of wild-type and variant gamma-carboxyglutamic acid-containing domains of factor VII. Martin, D.M., O'Brien, D.P., Tuddenham, E.G., Byfield, P.G. Biochemistry (1993)
- The interaction between the endothelial cell protein C receptor and protein C is dictated by the gamma-carboxyglutamic acid domain of protein C. Regan, L.M., Mollica, J.S., Rezaie, A.R., Esmon, C.T. J. Biol. Chem. (1997)
- Enhanced rate of cleavage at Arg-306 and Arg-506 in coagulation factor Va by Gla domain-mutated human-activated protein C. Sun, Y.H., Tran, S., Norstrøm, E.A., Dahlbäck, B. J. Biol. Chem. (2004)
- A unique precipitating autoantibody against plasma thromboplastin antecedent associated with multiple apparent plasma clotting factor deficiencies in a patient with systemic lupus erythematosus. Poon, M.C., Saito, H., Koopman, W.J. Blood (1984)
- Reduced activation of the Gla19Ala FX variant via the extrinsic coagulation pathway results in symptomatic CRMred FX deficiency. Pinotti, M., Marchetti, G., Baroni, M., Cinotti, F., Morfini, M., Bernardi, F. Thromb. Haemost. (2002)
- The relative orientation of Gla and EGF domains in coagulation factor X is altered by Ca2+ binding to the first EGF domain. A combined NMR-small angle X-ray scattering study. Sunnerhagen, M., Olah, G.A., Stenflo, J., Forsén, S., Drakenberg, T., Trewhella, J. Biochemistry (1996)
- Sequence-specific 1H NMR assignments, secondary structure, and location of the calcium binding site in the first epidermal growth factor like domain of blood coagulation factor IX. Huang, L.H., Cheng, H., Pardi, A., Tam, J.P., Sweeney, W.V. Biochemistry (1991)
- Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27. Oberlé, I., Camerino, G., Wrogemann, K., Arveiler, B., Hanauer, A., Raimondi, E., Mandel, J.L. Hum. Genet. (1987)
- Carrier detection and prenatal diagnosis of hemophilia in developing countries. Peyvandi, F. Semin. Thromb. Hemost. (2005)
- Factor X activating enzyme from Russell's viper venom: isolation and characterization. Kisiel, W., Hermodson, M.A., Davie, E.W. Biochemistry (1976)
- Importance of factor VIIa Gla-domain residue Arg-36 for recognition of the macromolecular substrate factor X Gla-domain. Ruf, W., Shobe, J., Rao, S.M., Dickinson, C.D., Olson, A., Edgington, T.S. Biochemistry (1999)