SpliceAtlasDB
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🧬 基因注释:TMC8

📝 官方信息

官方名称:transmembrane channel like 8

功能摘要:Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子
  • RBFOX2 综合评分: 0.362 · 证据 2 条
  • CELF2 综合评分: 0.212 · 证据 2 条
  • PRPF8 综合评分: 0.200 · 证据 1 条
  • PRPF4 综合评分: 0.150 · 证据 1 条
  • Srsf3 综合评分: 0.150 · 证据 1 条
  • U2af1 综合评分: 0.150 · 证据 1 条
  • Rbm7 综合评分: 0.100 · 证据 1 条
  • Rnps1 综合评分: 0.100 · 证据 1 条
  • U2af2 综合评分: 0.100 · 证据 1 条
🏥 关联疾病

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