A deficiency or dysfunction of factor IX (FIX) caused by mutations in the F9 gene is associated with a blood clotting disorder hemophilia B (HB). The FIX protein level may be decreased in the circulation by F9 mutations affecting FIX protein synthesis, stability, or secretion (Kurachi S et al. 1997; Enjolras N et al. 2004; Branchini A et al. 2013, 2017; Tajnik M et al. 2016; Odaira K et al. 2019).
The Reactome event describes intracellular accumulation and/or decreased secretion of FIX due to different HB-related genetic alterations spread throughout the F9 gene.