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🧬 基因注释:NDUFS1

📝 官方信息

官方名称:NADH:ubiquinone oxidoreductase core subunit S1

功能摘要:The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011].

🎯 作为靶基因的剪接因子
  • Tardbp 综合评分: 0.462 · 证据 1 条
  • PTBP1 综合评分: 0.444 · 证据 2 条
  • RBFOX2 综合评分: 0.444 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.412 · 证据 2 条
  • HNRNPC 综合评分: 0.412 · 证据 2 条
  • Srsf3 综合评分: 0.362 · 证据 1 条
  • HNRNPF 综合评分: 0.350 · 证据 2 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • PCBP2 综合评分: 0.324 · 证据 1 条
  • EWSR1 综合评分: 0.312 · 证据 2 条
  • FUBP1 综合评分: 0.312 · 证据 2 条
  • RBM10 综合评分: 0.312 · 证据 2 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • HNRNPD 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
  • KHSRP 综合评分: 0.300 · 证据 2 条
  • SRSF3 综合评分: 0.300 · 证据 1 条
  • SRSF9 综合评分: 0.300 · 证据 1 条
  • fus 综合评分: 0.300 · 证据 1 条
🏥 关联疾病

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