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🧬 基因注释:PDLIM3

📝 官方信息

官方名称:PDZ and LIM domain 3

功能摘要:The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy. [provided by RefSeq, Apr 2012].

🎯 作为靶基因的剪接因子
  • FUS 综合评分: 0.398 · 证据 1 条
  • fus 综合评分: 0.398 · 证据 1 条
  • Mbnl2 综合评分: 0.298 · 证据 1 条
  • Tardbp 综合评分: 0.274 · 证据 1 条
  • EWSR1 综合评分: 0.250 · 证据 2 条
  • CSTF2 综合评分: 0.150 · 证据 2 条
  • U2af1 综合评分: 0.150 · 证据 1 条
  • CSTF2T 综合评分: 0.100 · 证据 2 条
  • FUBP3 综合评分: 0.100 · 证据 2 条
  • Rbmx 综合评分: 0.100 · 证据 1 条
  • Rbpms 综合评分: 0.100 · 证据 1 条
  • U2af2 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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