SpliceAtlasDB
← 返回基因注释查询

🧬 基因注释:TNNI3

📝 官方信息

官方名称:troponin I3, cardiac type

功能摘要:Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). Troponin I is useful in making a diagnosis of heart failure, and of ischemic heart disease. An elevated level of troponin is also now used as indicator of acute myocardial injury in patients hospitalized with moderate/severe Coronavirus Disease 2019 (COVID-19). Such elevation has also been associated with higher risk of mortality in cardiovascular disease patients hospitalized due to COVID-19. [provided by RefSeq, Aug 2020].

🎯 作为靶基因的剪接因子
  • PTBP1 综合评分: 0.300 · 证据 2 条
  • U2af1 综合评分: 0.274 · 证据 1 条
  • PRPF8 综合评分: 0.200 · 证据 1 条
  • Ptbp2 综合评分: 0.200 · 证据 1 条
  • Srsf1 综合评分: 0.150 · 证据 1 条
  • Rnps1 综合评分: 0.100 · 证据 1 条
  • U2af2 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

🔗 外部数据库链接