SpliceAtlasDB
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🧬 基因注释:SOX10

📝 官方信息

官方名称:SRY-box transcription factor 10

功能摘要:This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子
  • HNRNPH1 综合评分: 0.350 · 证据 2 条
  • RBM10 综合评分: 0.312 · 证据 2 条
  • MBNL2 综合评分: 0.200 · 证据 1 条
  • Mbnl2 综合评分: 0.200 · 证据 1 条
  • ELAVL3 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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