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🧬 基因注释:TPM3

📝 官方信息

官方名称:tropomyosin 3

功能摘要:This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013].

🎯 作为靶基因的剪接因子
  • HNRNPC 综合评分: 0.556 · 证据 2 条
  • FUS 综合评分: 0.474 · 证据 1 条
  • fus 综合评分: 0.474 · 证据 1 条
  • Srsf3 综合评分: 0.424 · 证据 1 条
  • HNRNPA2B1 综合评分: 0.412 · 证据 2 条
  • HNRNPK 综合评分: 0.398 · 证据 2 条
  • ELAVL3 综合评分: 0.363 · 证据 1 条
  • PTBP1 综合评分: 0.362 · 证据 2 条
  • SRSF2 综合评分: 0.362 · 证据 1 条
  • Srsf2 综合评分: 0.362 · 证据 1 条
  • PCBP2 综合评分: 0.360 · 证据 1 条
  • HNRNPA1 综合评分: 0.350 · 证据 2 条
  • HNRNPH1 综合评分: 0.350 · 证据 2 条
  • HNRNPM 综合评分: 0.350 · 证据 2 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • QKI 综合评分: 0.350 · 证据 1 条
  • TIA1 综合评分: 0.348 · 证据 1 条
  • U2af1 综合评分: 0.346 · 证据 1 条
  • UPF1 综合评分: 0.322 · 证据 1 条
  • EWSR1 综合评分: 0.312 · 证据 2 条
🏥 关联疾病

该基因暂无关联疾病记录

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