SpliceAtlasDB
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🧬 基因注释:DDX17

📝 官方信息

官方名称:DEAD-box helicase 17

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 splicesosome 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, which is an ATPase activated by a variety of RNA species, but not by dsDNA. This protein, and that encoded by DDX5 gene, are more closely related to each other than to any other member of the DEAD box family. This gene can encode multiple isoforms due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) start codon. [provided by RefSeq, Apr 2011].

🎯 作为靶基因的剪接因子
🏥 关联疾病
neurodegenerative disease
(0.548)
Neurodevelopmental disorder
(0.457)
Intellectual disability
(0.370)
lysosomal storage disease
(0.370)
Cholecystitis
(0.255)
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