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🧬 基因注释:PABPC1L

📝 官方信息

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

功能摘要:This gene belongs to the polyadenylate-binding protein type-1 family of proteins. Members of this family bind to the polyA tails of mRNAs to regulate mRNA stability and translation. The mouse ortholog of this gene is required for female fertility. In human, expression of a functional protein is regulated by alternative splicing. The protein-coding splice variant for this gene is abundantly expressed in human oocytes, while a noncoding splice variant subject to nonsense-mediated decay is the predominant splice variant expressed in somatic tissues. [provided by RefSeq, Aug 2019].

🎯 作为靶基因的剪接因子
🏥 关联疾病
oocyte/zygote/embryo maturation arrest 22
(0.508)
female infertility due to zona pellucida defect
(0.416)
inherited oocyte maturation defect
(0.259)
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🔗 外部数据库链接