Aliases for F9 Gene
External Ids for F9 Gene
Previous GeneCards Identifiers for F9 Gene
This gene encodes 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. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Sep 2015]
GeneCards Summary for F9 Gene
F9 (Coagulation Factor IX) is a Protein Coding gene. Diseases associated with F9 include Hemophilia B and Thrombophilia, X-Linked, Due To Factor Ix Defect. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Response to elevated platelet cytosolic Ca2+. GO annotations related to this gene include calcium ion binding and peptidase activity. An important paralog of this gene is F10.
UniProtKB/Swiss-Prot for F9 Gene
Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa.