SpliceAtlasDB
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🧬 基因注释:SNTA1

📝 官方信息

官方名称:syntrophin alpha 1

功能摘要:Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013].

🎯 作为靶基因的剪接因子
  • HNRNPC 综合评分: 0.412 · 证据 2 条
  • HNRNPH1 综合评分: 0.412 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.350 · 证据 2 条
  • HNRNPK 综合评分: 0.300 · 证据 2 条
  • HNRNPU 综合评分: 0.300 · 证据 2 条
  • RBFOX2 综合评分: 0.300 · 证据 2 条
  • SRSF3 综合评分: 0.300 · 证据 1 条
  • RBM15 综合评分: 0.250 · 证据 2 条
  • PRPF8 综合评分: 0.200 · 证据 1 条
  • YBX1 综合评分: 0.198 · 证据 1 条
  • PABPC4 综合评分: 0.150 · 证据 2 条
  • Srsf1 综合评分: 0.150 · 证据 1 条
  • Tardbp 综合评分: 0.150 · 证据 1 条
  • U2af1 综合评分: 0.150 · 证据 1 条
  • CPSF2 综合评分: 0.100 · 证据 1 条
  • NXF1 综合评分: 0.100 · 证据 1 条
  • RBM20 综合评分: 0.100 · 证据 2 条
  • Rbmx 综合评分: 0.100 · 证据 1 条
  • Rnps1 综合评分: 0.100 · 证据 1 条
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