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TARDBP TAR DNA binding protein

Gene ID: 23435, updated on 7-Dec-2018
Also known as: ALS10; TDP-43

Summary

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]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-09-25)

ClinGen Genome Curation Page
Haploinsufficency

No evidence available (Last evaluated (2018-09-25)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
1p36.22
Sequence:
Chromosome: 1; NC_000001.11 (11012622..11030528)
Total number of exons:
8

Links

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