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Details on Person The F9 gene encodes coagulation factor IX (FIX), a vitamin K...
| Class:Id | Summation:9670826 |
|---|---|
| _displayName | The F9 gene encodes coagulation factor IX (FIX), a vitamin K... |
| _timestamp | 2020-04-02 02:05:07 |
| created | [InstanceEdit:9670828] Shamovsky, Veronica, 2019-12-17 |
| literatureReference | [LiteratureReference:9662306] Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis [LiteratureReference:9671812] An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B [LiteratureReference:9670806] The carboxyl-terminal region of factor IX is essential for its secretion [LiteratureReference:9670818] Characterization of three abnormal factor IX variants (Bm Lake Elsinore, Long Beach, and Los Angeles) of hemophilia-B. Evidence for defects affecting the latent catalytic site [LiteratureReference:9670825] Replacement of isoleucine-397 by threonine in the clotting proteinase factor IXa (Los Angeles and Long Beach variants) affects macromolecular catalysis but not L-tosylarginine methyl ester hydrolysis. Lack of correlation between the ox brain prothrombin time and the mutation site in the variant proteins [LiteratureReference:9670906] Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity [LiteratureReference:9671002] Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX [LiteratureReference:9660272] Hemophilia B: molecular pathogenesis and mutation analysis |
| modified | [InstanceEdit:9671814] Shamovsky, Veronica, 2019-12-20 [InstanceEdit:9671824] Shamovsky, Veronica, 2019-12-20 [InstanceEdit:9673425] Shamovsky, Veronica, 2020-01-07 [InstanceEdit:9674513] Shamovsky, Veronica, 2020-01-13 [InstanceEdit:9681503] Shamovsky, Veronica, 2020-04-02 |
| text | The F9 gene encodes coagulation factor IX (FIX), a vitamin K-dependent plasma protease that participates in the intrinsic blood coagulation pathway. FIX circulates as a zymogen, and is proteolytically activated to FIXa by activated FXIa or tissue factor-bound FVIIa. After being activated, FIXa forms a complex with Ca2+ ions, membrane phospholipids and coagulation factor VIIIa to activate coagulation factor X. Mutations within F9 gene that lead to quantitative and/or qualitative deficiencies in the circulating FIX protein are associated with hemophilia B (HB), a rare X-linked, recessively transmitted bleeding disorder (White GC et al. 2001; Rallapalli PM et al. 2013; Goodeve AC 2015). The disease severity in hemophilia is classified according to the plasma procoagulant levels of FIX activity. The severe form is defined as a factor level <1% of normal, the moderate form as a factor level of 1-5%, and the mild form with a factor level >5 and <40%. Patients with severe hemophilia frequently develop hemorrhages into joints, muscles or soft tissues without any apparent cause. They can also suffer from life-threatening bleeding episodes such as intracranial hemorrhages. Persons with mild and moderate factor deficiency rarely experience spontaneous hemorrhages, and excessive bleeding mostly occurs only following trauma or in association with invasive procedures. A wide range of different genetic alterations are spread throughout the F9 gene, including single nucleotide substitutions, small and large deletions (Rallapalli PM et al. 2013). However functional consequences of most F9 mutations are poorly studied. The Reactome event describes altered functions of HB-associated FIX variants such as reduced FIX protein secretion due to defective expression and/or processing, failed proteolysis of factor X to Xa by defective FIX and failed formation of a membrane complex in the presence of Ca2+ ions, phospholipid, and cofactor VIIIa. The annotated HB-associated FIX variants are supported with data from functional studies (Usharani P et al. 1985; Spitzer SG et al. 1990; Ludwig M et a. 1992; Kurachi S et al. 1997; Branchini A et al. 2013). |
| (summation) | [Pathway:9668250] Defective factor IX causes hemophilia B [Homo sapiens] |
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