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🧬 基因注释:PABPC1

📝 官方信息

官方名称:poly(A) binding protein cytoplasmic 1

功能摘要:This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The binding of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening which is the first step in mRNA decay. The gene is part of a small gene family including three protein-coding genes and several pseudogenes.[provided by RefSeq, Aug 2010].

🎯 作为靶基因的剪接因子
🏥 关联疾病
Intellectual disability
(0.529)
Global developmental delay
(0.466)
Atypical behavior
(0.462)
Expressive language delay
(0.462)
Seizure
(0.462)
🔍 查看该基因的所有关联疾病
🔗 外部数据库链接