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🧬 基因注释:NDUFS7

📝 官方信息

官方名称:NADH:ubiquinone oxidoreductase core subunit S7

功能摘要:This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子
  • RBFOX2 综合评分: 0.460 · 证据 2 条
  • Srsf3 综合评分: 0.460 · 证据 1 条
  • PTBP1 综合评分: 0.424 · 证据 2 条
  • HNRNPC 综合评分: 0.412 · 证据 2 条
  • HNRNPM 综合评分: 0.412 · 证据 2 条
  • HNRNPL 综合评分: 0.398 · 证据 2 条
  • KHSRP 综合评分: 0.398 · 证据 2 条
  • Tardbp 综合评分: 0.372 · 证据 1 条
  • HNRNPK 综合评分: 0.362 · 证据 2 条
  • SRSF2 综合评分: 0.362 · 证据 1 条
  • Srsf2 综合评分: 0.362 · 证据 1 条
  • HNRNPA1 综合评分: 0.350 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.350 · 证据 2 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • FUS 综合评分: 0.300 · 证据 1 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
  • ACIN1 综合评分: 0.294 · 证据 2 条
  • Rnps1 综合评分: 0.286 · 证据 1 条
🏥 关联疾病

该基因暂无关联疾病记录

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