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TARDBP TAR DNA binding protein

Gene ID: 23435, updated on 13-May-2024
Gene type: protein coding
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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Amyotrophic lateral sclerosis type 10See labs
Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.
GeneReviews: Not available
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
GeneReviews: Not available
TARDBP-related frontotemporal dementia
MedGen: C3150169GeneReviews: Not available
See labs

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 (11012654..11030528)
Total number of exons:
10

Links

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