🧬 基因注释：PLAU
官方名称：plasminogen activator, urokinase
功能摘要：This gene encodes a secreted serine protease that converts plasminogen to plasmin. The encoded preproprotein is proteolytically processed to generate A and B polypeptide chains. These chains associate via a single disulfide bond to form the catalytically inactive high molecular weight urokinase-type plasminogen activator (HMW-uPA). HMW-uPA can be further processed into the catalytically active low molecular weight urokinase-type plasminogen activator (LMW-uPA). This low molecular weight form does not bind to the urokinase-type plasminogen activator receptor. Mutations in this gene may be associated with Quebec platelet disorder and late-onset Alzheimer's disease. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016].
- HNRNPA2B1 综合评分: 0.474 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- Tra2b 综合评分: 0.198 · 证据 1 条
- YBX1 综合评分: 0.198 · 证据 1 条
- MSI1 综合评分: 0.150 · 证据 1 条
- Srsf1 综合评分: 0.150 · 证据 1 条
- Tardbp 综合评分: 0.150 · 证据 1 条
- EIF4A3 综合评分: 0.100 · 证据 2 条
- Sf3b1 综合评分: 0.100 · 证据 1 条
- Srsf7 综合评分: 0.100 · 证据 1 条
该基因暂无关联疾病记录