缺陷F9分泌
中文名称
通路描述
由F9基因突变引起的因子IX（FIX）缺乏或功能障碍与血友病B（HB）这种凝血障碍有关。FIX蛋白水平可能在循环中因F9突变影响FIX蛋白合成、稳定性或分泌而降低（Kurachi S等，1997；Enjolras N等，2004；Branchini A等，2013, 2017；Tajnik M等，2016；Odaira K等，2019）。Reactome事件描述了由于F9基因中不同血友病B相关遗传改变引起的FIX细胞内积累和/或分泌减少。
英文描述
Defective F9 secretion 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.
所含基因
1 个基因