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🧬 基因注释:TARDBP

📝 官方信息

官方名称:TAR DNA binding protein

功能摘要:HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子
🏥 关联疾病
amyotrophic lateral sclerosis
(0.820)
familial amyotrophic lateral sclerosis
(0.746)
frontotemporal dementia with motor neuron disease
(0.705)
frontotemporal dementia
(0.466)
neurodegenerative disease
(0.451)
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