缺陷F9变体不激活FX
中文名称
通路描述
FIX因子缺乏症与血友病B（HB）患者中的轻度至严重出血有关（Rallapalli PM等，2013）。HB是由F9基因中广泛存在的突变引起的，包括点突变（无义和错义）、插入、缺失和其他复杂的重排（Rallapalli PM等，2013）。Reactome事件描述了因血友病B（HB）相关因子IX变体如G363R及G363E（Lu Q等，2015）、G357E（Miyata T等，1991）、A436V（Usharani P等，1985）、I443T（Hamaguchi N等，1991）、G409V（Bajaj SP等，1990）、D410H和S411G（Ludwig M等，1992）等缺陷丝氨酸蛋白酶活性而导致FXa生成失败的功能后果。
英文描述
Defective F9 variant does not activate FX Factor IX (FIX) deficiency is associated with mild to severe bleeding in hemophilia B (HB) patients (Rallapalli PM et al. 2013). HB is caused by a wide range of mutations that can include point mutations (nonsense and missense), insertions, deletions and other complex rearrangements of the F9 gene (Rallapalli PM et al. 2013). The Reactome event describes failed generation of FXa as the functional consequence of the defective serine protease activity of hemophilia B (HB)-associated FIX variants such as G363R & G363E (Lu Q et al. 2015), G357E (Miyata T et al. 1991), A436V (Usharani P et al. 1985), I443T (Hamaguchi N et al. 1991), G409V (Bajaj SP et al. 1990), D410H and S411G (Ludwig M et al. 1992).
所含基因
3 个基因