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🧬 基因注释:AHSP

📝 官方信息

官方名称:alpha hemoglobin stabilizing protein

功能摘要:This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015].

🎯 作为靶基因的剪接因子
  • SRSF3 综合评分: 0.300 · 证据 1 条
  • PABPC4 综合评分: 0.150 · 证据 2 条
🏥 关联疾病

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