Western blot analysis of F9 over-expressed 293 cell line, cotransfected with F9 Validated Chimera RNAi ( Cat # H00002158-R01V ) (Lane 2) or non-transfected control (Lane 1). Blot probed with F9 monoclonal antibody (M01), clone 2C9 (Cat # H00002158-M01 ). GAPDH ( 36.1 kDa ) used as specificity and loading control.
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. [provided by RefSeq