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🧬 基因注释:PRNP

📝 官方信息

官方名称:prion protein (Kanno blood group)

功能摘要:The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014].

🎯 作为靶基因的剪接因子
  • HNRNPA2B1 综合评分: 0.448 · 证据 2 条
  • KHSRP 综合评分: 0.444 · 证据 2 条
  • HNRNPC 综合评分: 0.412 · 证据 2 条
  • HNRNPM 综合评分: 0.412 · 证据 2 条
  • MBNL2 综合评分: 0.396 · 证据 1 条
  • Mbnl2 综合评分: 0.386 · 证据 1 条
  • HNRNPU 综合评分: 0.362 · 证据 2 条
  • Nova2 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
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • QKI 综合评分: 0.350 · 证据 1 条
  • RBM15 综合评分: 0.312 · 证据 2 条
  • TIA1 综合评分: 0.312 · 证据 1 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • PTBP1 综合评分: 0.300 · 证据 2 条
  • RBFOX2 综合评分: 0.300 · 证据 2 条
  • SRSF3 综合评分: 0.300 · 证据 1 条
  • Srsf3 综合评分: 0.300 · 证据 1 条
  • fus 综合评分: 0.300 · 证据 1 条
🏥 关联疾病

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