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🧬 基因注释:AKR1D1

📝 官方信息

官方名称:aldo-keto reductase family 1 member D1

功能摘要:The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010].

🎯 作为靶基因的剪接因子
  • HNRNPL 综合评分: 0.300 · 证据 2 条
  • PRPF8 综合评分: 0.262 · 证据 1 条
  • U2af1 综合评分: 0.150 · 证据 1 条
  • CSTF2T 综合评分: 0.100 · 证据 2 条
  • Rbmx 综合评分: 0.100 · 证据 1 条
  • Rnps1 综合评分: 0.100 · 证据 1 条
  • U2af2 综合评分: 0.100 · 证据 1 条
🏥 关联疾病

该基因暂无关联疾病记录

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