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🧬 基因注释:KCNE1

📝 官方信息

官方名称:potassium voltage-gated channel subfamily E regulatory subunit 1

功能摘要:The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子
  • RBM39 综合评分: 0.312 · 证据 2 条
  • U2af1 综合评分: 0.150 · 证据 1 条
  • CSTF2T 综合评分: 0.100 · 证据 2 条
  • Srsf7 综合评分: 0.100 · 证据 1 条
🏥 关联疾病

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