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🧬 基因注释:CEBPE

📝 官方信息

官方名称:CCAAT enhancer binding protein epsilon

功能摘要:The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子
  • Tardbp 综合评分: 0.418 · 证据 1 条
  • KHSRP 综合评分: 0.300 · 证据 2 条
  • EWSR1 综合评分: 0.250 · 证据 2 条
  • NXF1 综合评分: 0.162 · 证据 1 条
  • UPF1 综合评分: 0.162 · 证据 1 条
  • CPSF2 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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