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🧬 基因注释:RAD50

📝 官方信息

官方名称:RAD50 double strand break repair protein

功能摘要:The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010].

🎯 作为靶基因的剪接因子
  • HNRNPC 综合评分: 0.474 · 证据 2 条
  • FUS 综合评分: 0.424 · 证据 1 条
  • fus 综合评分: 0.424 · 证据 1 条
  • KHSRP 综合评分: 0.362 · 证据 2 条
  • PTBP1 综合评分: 0.362 · 证据 2 条
  • RBFOX2 综合评分: 0.362 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.350 · 证据 2 条
  • HNRNPF 综合评分: 0.350 · 证据 2 条
  • HNRNPM 综合评分: 0.350 · 证据 2 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • TIA1 综合评分: 0.312 · 证据 1 条
  • HNRNPK 综合评分: 0.300 · 证据 2 条
  • HNRNPL 综合评分: 0.300 · 证据 2 条
  • HNRNPU 综合评分: 0.300 · 证据 2 条
  • SRSF3 综合评分: 0.300 · 证据 1 条
  • Srsf3 综合评分: 0.300 · 证据 1 条
  • CSTF2 综合评分: 0.274 · 证据 2 条
  • EWSR1 综合评分: 0.250 · 证据 2 条
  • FUBP1 综合评分: 0.250 · 证据 2 条
  • RBM10 综合评分: 0.250 · 证据 2 条
🏥 关联疾病

该基因暂无关联疾病记录

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