SpliceAtlasDB
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🧬 基因注释:DHX30

📝 官方信息

官方名称:DExH-box helicase 30

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 DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013].

🎯 作为靶基因的剪接因子
🏥 关联疾病
neurodevelopmental disorder with severe motor impairment and absent language
(0.801)
neurodegenerative disease
(0.515)
genetic disorder
(0.486)
Neurodevelopmental disorder
(0.467)
microcephaly
(0.460)
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🔗 外部数据库链接