機能DNA 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.
組織特異性Ubiquitously expressed. In particular, expression is high in pancreas, placenta, lung, genital tract and spleen.
関連疾患Defects 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.
翻訳後修飾Hyperphosphorylated 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.
細胞内局在Nucleus. 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.
ab109535 at 1/100 dilution staining TARDBP in paraffin-embedded Human papillary carcinoma tissue by Immunohistochemistry.
Western blot - Anti-TDP43 [EPR5810] antibody (ab109535)
All lanes : Anti-TDP43 antibody [EPR5810] (ab109535) at 1/1000 dilution
Lane 1 : HeLa cell lysate Lane 2 : 293T cell lysate Lane 3 : K562 cell lysate Lane 4 : A431 cell lysate
Lysates/proteins at 10 µg per lane.
Secondary HRP-labelled goat anti-rabbit at 1/2000 dilution
Predicted band size : 45 kDa
Anti-TDP43 antibody [EPR5810] (ab109535) 使用論文
This product has been referenced in:
Llewellyn KJ et al. A Fine Balance of Dietary Lipids Improves Pathology of a Murine Model of VCP-Associated Multisystem Proteinopathy. PLoS One10:e0131995 (2015).
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