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🧬 基因注释:CPSF3

📝 官方信息

官方名称:cleavage and polyadenylation specific factor 3

功能摘要:This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the cleavage and polyadenylation specificity factor and functions as an endonuclease that recognizes the pre-mRNA 3'-cleavage site AAUAAA prior to polyadenylation. It also cleaves after the pre-mRNA sequence ACCCA during histone 3'-end pre-mRNA processing. [provided by RefSeq, Oct 2012].

🎯 作为靶基因的剪接因子
🏥 关联疾病
neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
(0.601)
neurodegenerative disease
(0.527)
neurodevelopmental disorder with hypotonia, microcephaly, and seizures
(0.416)
dengue disease
(0.370)
complex neurodevelopmental disorder
(0.370)
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🔗 外部数据库链接