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基因注释:SCNN1B

官方信息

官方名称:sodium channel epithelial 1 subunit beta

功能摘要:Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009].

作为靶基因的剪接因子
  • RBM10 综合评分: 0.250 · 证据 2 条
  • Tardbp 综合评分: 0.150 · 证据 1 条
  • Srsf7 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

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