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F9 / Factor IX is a vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease.
Gene Name: | coagulation factor IX |
Family/Subfamily: | Protease , Serine S1 |
Synonyms: | F9, Christmas Disease, Coagulation factor IX, Factor IX Deficiency, FIX, HEMB, F9 p22, Factor 9, Factor IX, Factor IX F9, FIX F9, Haemophilia B, THPH8, Christmas factor, Hemophilia B, PTC, Serine protease |
Target Sequences: | NM_000133 NP_000124.1 P00740 |
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