基因注释：KLKB1
官方信息
官方名称：kallikrein B1
功能摘要：This gene encodes a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. The encoded preproprotein present in plasma as a non-covalent complex with high molecular weight kininogen undergoes proteolytic processing mediated by activated coagulation factor XII to generate a disulfide-linked, heterodimeric serine protease comprised of heavy and light chains. Certain mutations in this gene cause prekallikrein deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016].
作为靶基因的剪接因子
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- Tardbp 综合评分: 0.274 · 证据 1 条
- CSTF2T 综合评分: 0.162 · 证据 2 条
- ELAVL3 综合评分: 0.162 · 证据 1 条
- Rbmx 综合评分: 0.162 · 证据 1 条
- CPSF2 综合评分: 0.100 · 证据 1 条
- Rbpms 综合评分: 0.100 · 证据 1 条
- UPF1 综合评分: 0.100 · 证据 1 条
关联疾病
该基因暂无关联疾病记录