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🧬 基因注释:APP

📝 官方信息

官方名称:amyloid beta precursor protein

功能摘要:This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014].

🎯 作为靶基因的剪接因子
  • FUS 综合评分: 0.514 · 证据 1 条
  • fus 综合评分: 0.514 · 证据 1 条
  • Nova2 综合评分: 0.491 · 证据 1 条
  • MBNL2 综合评分: 0.442 · 证据 1 条
  • TIA1 综合评分: 0.436 · 证据 1 条
  • Tardbp 综合评分: 0.430 · 证据 1 条
  • HNRNPA2B1 综合评分: 0.412 · 证据 2 条
  • HNRNPM 综合评分: 0.412 · 证据 2 条
  • PTBP1 综合评分: 0.362 · 证据 2 条
  • PCBP2 综合评分: 0.360 · 证据 1 条
  • HNRNPC 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
  • RBM10 综合评分: 0.312 · 证据 2 条
  • UPF1 综合评分: 0.306 · 证据 1 条
  • HNRNPD 综合评分: 0.300 · 证据 2 条
  • HNRNPK 综合评分: 0.300 · 证据 2 条
  • HNRNPL 综合评分: 0.300 · 证据 2 条
  • HNRNPU 综合评分: 0.300 · 证据 2 条
🏥 关联疾病

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