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🧬 基因注释:SLC12A5

📝 官方信息

官方名称:solute carrier family 12 member 5

功能摘要:K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008].

🎯 作为靶基因的剪接因子
  • FUS 综合评分: 0.300 · 证据 1 条
  • fus 综合评分: 0.300 · 证据 1 条
  • Tardbp 综合评分: 0.274 · 证据 1 条
  • Mbnl2 综合评分: 0.262 · 证据 1 条
  • MBNL2 综合评分: 0.200 · 证据 1 条
  • Nova2 综合评分: 0.200 · 证据 1 条
  • PCBP2 综合评分: 0.200 · 证据 1 条
  • Ptbp2 综合评分: 0.200 · 证据 1 条
  • U2af1 综合评分: 0.150 · 证据 1 条
  • ELAVL3 综合评分: 0.100 · 证据 1 条
  • NXF1 综合评分: 0.100 · 证据 1 条
  • Rbm7 综合评分: 0.100 · 证据 1 条
🏥 关联疾病

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