Human TARDBP peptide (ab41971)
- Product nameHuman TARDBP peptideSee all TARDBP proteins and peptides ...
Our Abpromise guarantee covers the use of ab41971 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Preparation and Storage
- Stability and Storage
Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Information available upon request.
- TAR DNA binding protein
- TAR DNA binding protein 43
- TAR DNA-binding protein 43
- TDP 43
- FunctionDNA and RNA-binding protein which regulates transcription and splicing. Involved in the regulation of CFTR splicing. It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region near the 3'-splice site of this exon. The resulting aberrant splicing is associated with pathological features typical of cystic fibrosis. May also be involved in microRNA biogenesis, apoptosis and cell division. Can repress HIV-1 transcription by binding to the HIV-1 long terminal repeat. Stabilizes the low molecular weight neurofilament (NFL) mRNA through a direct interaction with the 3' UTR.
- Tissue specificityUbiquitously expressed. In particular, expression is high in pancreas, placenta, lung, genital tract and spleen.
- Involvement in diseaseDefects in TARDBP are the cause of amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]. ALS is a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of ALS is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
- Sequence similaritiesContains 2 RRM (RNA recognition motif) domains.
- DomainThe RRM domains can bind to both DNA and RNA.
modificationsHyperphosphorylated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.
Ubiquitinated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.
Cleaved to generate C-terminal fragments in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.
- Cellular localizationNucleus. In patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis, it is absent from the nucleus of affected neurons but it is the primary component of cytoplasmic ubiquitin-positive inclusion bodies.
References for Human TARDBP peptide (ab41971)
ab41971 has not yet been referenced specifically in any publications.