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🧬 基因注释:COASY

📝 官方信息

官方名称:Coenzyme A synthase

功能摘要:Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, CoA and its derivatives are also involved in membrane trafficking and signal transduction. This gene encodes the bifunctional protein coenzyme A synthase (CoAsy) which carries out the last two steps in the biosynthesis of CoA from pantothenic acid (vitamin B5). The phosphopantetheine adenylyltransferase domain of this bifunctional protein catalyzes the conversion of 4'-phosphopantetheine into dephospho-coenzyme A (dpCoA) while its dephospho-CoA kinase domain completes the final step by phosphorylating dpCoA to form CoA. Mutations in this gene are associated with neurodegeneration with brain iron accumulation (NBIA). Alternative splicing results in multiple isoforms. [provided by RefSeq, Apr 2014].

🎯 作为靶基因的剪接因子
  • HNRNPH1 综合评分: 0.494 · 证据 2 条
  • HNRNPC 综合评分: 0.474 · 证据 2 条
  • HNRNPK 综合评分: 0.444 · 证据 2 条
  • SRSF9 综合评分: 0.362 · 证据 1 条
  • Srsf3 综合评分: 0.362 · 证据 1 条
  • PCBP2 综合评分: 0.360 · 证据 1 条
  • HNRNPA2B1 综合评分: 0.350 · 证据 2 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • U2af1 综合评分: 0.324 · 证据 1 条
  • RBM15 综合评分: 0.312 · 证据 2 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • PTBP1 综合评分: 0.300 · 证据 2 条
  • RBFOX2 综合评分: 0.300 · 证据 2 条
  • SRSF3 综合评分: 0.300 · 证据 1 条
  • fus 综合评分: 0.300 · 证据 1 条
  • Rbmx 综合评分: 0.296 · 证据 1 条
  • UPF1 综合评分: 0.286 · 证据 1 条
  • PRPF8 综合评分: 0.262 · 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
🏥 关联疾病

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