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🧬 基因注释:NDUFS2

📝 官方信息

官方名称:NADH:ubiquinone oxidoreductase core subunit S2

功能摘要:The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009].

🎯 作为靶基因的剪接因子
  • HNRNPC 综合评分: 0.412 · 证据 2 条
  • HNRNPM 综合评分: 0.412 · 证据 2 条
  • FUS 综合评分: 0.398 · 证据 1 条
  • PTBP1 综合评分: 0.398 · 证据 2 条
  • fus 综合评分: 0.398 · 证据 1 条
  • CELF2 综合评分: 0.379 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.350 · 证据 2 条
  • HNRNPH1 综合评分: 0.350 · 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
  • SRSF2 综合评分: 0.300 · 证据 1 条
  • SRSF9 综合评分: 0.300 · 证据 1 条
  • Srsf2 综合评分: 0.300 · 证据 1 条
  • PRPF8 综合评分: 0.298 · 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
  • RBM10 综合评分: 0.250 · 证据 2 条
  • RBM15 综合评分: 0.250 · 证据 2 条
  • RBM22 综合评分: 0.250 · 证据 2 条
  • TIA1 综合评分: 0.250 · 证据 1 条
🏥 关联疾病

该基因暂无关联疾病记录

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