SpliceAtlasDB
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🧬 基因注释:DDX23

📝 官方信息

官方名称:DEAD-box helicase 23

功能摘要:This gene encodes a member of the DEAD box protein family. 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. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子
🏥 关联疾病
global developmental delay with speech and behavioral abnormalities
(0.370)
dengue disease
(0.370)
Neurodevelopmental disorder
(0.343)
Motor delay
(0.266)
bilateral perisylvian polymicrogyria
(0.266)
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🔗 外部数据库链接