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🧬 基因注释:NDUFB9

📝 官方信息

官方名称:NADH:ubiquinone oxidoreductase subunit B9

功能摘要:The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015].

🎯 作为靶基因的剪接因子
  • FUS 综合评分: 0.486 · 证据 1 条
  • fus 综合评分: 0.486 · 证据 1 条
  • RBFOX2 综合评分: 0.460 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.412 · 证据 2 条
  • Tardbp 综合评分: 0.372 · 证据 1 条
  • HNRNPC 综合评分: 0.350 · 证据 2 条
  • HNRNPM 综合评分: 0.350 · 证据 2 条
  • TIA1 综合评分: 0.312 · 证据 1 条
  • PTBP1 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
  • PRPF8 综合评分: 0.298 · 证据 1 条
  • U2af2 综合评分: 0.260 · 证据 1 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
  • NXF1 综合评分: 0.224 · 证据 1 条
  • CPSF6 综合评分: 0.212 · 证据 2 条
  • U2af1 综合评分: 0.212 · 证据 1 条
  • Rnps1 综合评分: 0.198 · 证据 1 条
🏥 关联疾病

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