SpliceAtlasDB
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🧬 基因注释:DDX27

📝 官方信息

官方名称:DEAD-box helicase 27

功能摘要:DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein involved in the processing of 5.8S and 28S ribosomal RNAs. More specifically, the encoded protein localizes to the nucleolus, where it interacts with the PeBoW complex to ensure proper 3' end formation of 47S rRNA. [provided by RefSeq, Jan 2017].

🎯 作为靶基因的剪接因子
🏥 关联疾病
neurodegenerative disease
(0.498)
genetic developmental and epileptic encephalopathy
(0.118)
undetermined early-onset epileptic encephalopathy
(0.118)
colorectal carcinoma
(0.104)
🔍 查看该基因的所有关联疾病
🔗 外部数据库链接