🧬 基因注释：SCNN1A
📝 官方信息
官方名称：sodium channel epithelial 1 subunit alpha
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 alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009].
🎯 作为靶基因的剪接因子
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- MBNL1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- MSI1 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF4 置信度: 1.0
- QKI 置信度: 1.0
- Rbm7 置信度: 1.0
- Rnps1 置信度: 1.0
- SRSF3 置信度: 1.0
- Srsf3 置信度: 1.0
- TFIP11 置信度: 1.0
- Tardbp 置信度: 1.0
- U2af1 置信度: 1.0
- U2af2 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录