SpliceAtlasDB
← 返回基因注释查询

🧬 基因注释:CTSD

📝 官方信息

官方名称:cathepsin D

功能摘要:This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015].

🎯 作为靶基因的剪接因子
  • RBFOX2 综合评分: 0.424 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.412 · 证据 2 条
  • QKI 综合评分: 0.412 · 证据 1 条
  • PTBP1 综合评分: 0.362 · 证据 2 条
  • Srsf3 综合评分: 0.362 · 证据 1 条
  • PCBP2 综合评分: 0.360 · 证据 1 条
  • HNRNPH1 综合评分: 0.350 · 证据 2 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • Tardbp 综合评分: 0.310 · 证据 1 条
  • UPF1 综合评分: 0.306 · 证据 1 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • HNRNPK 综合评分: 0.300 · 证据 2 条
  • HNRNPU 综合评分: 0.300 · 证据 2 条
  • SRSF3 综合评分: 0.300 · 证据 1 条
  • fus 综合评分: 0.300 · 证据 1 条
  • Mbnl2 综合评分: 0.298 · 证据 1 条
  • PCBP1 综合评分: 0.298 · 证据 2 条
  • GRSF1 综合评分: 0.274 · 证据 2 条
  • U2af1 综合评分: 0.274 · 证据 1 条
  • NOVA1 综合评分: 0.262 · 证据 2 条
🏥 关联疾病

该基因暂无关联疾病记录

🔗 外部数据库链接