The specific immunogen used to produce this antibody is proprietary information.

Endogenous

TARDBP TDP43

TAR DNA-binding protein 43 (TDP-43)

TAR DNA binding protein (TARDBP) Homo sapiens 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] ,

Disease:Defects in TARDBP are a 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. TARDBP is the primary component of ubiquitin-positive inclusion bodies found in ALS and in frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLDU) . ,Function: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. ,PTM:Cleaved to generate C-terminal fragments in hippocampus , neocortex , and spinal cord from individuals affected with ALS and FTLDU. ,PTM:Hyperphosphorylated in hippocampus , neocortex , and spinal cord from individuals affected with ALS and FTLDU. ,PTM:Ubiquitinated in hippocampus , neocortex , and spinal cord from individuals affected with ALS and FTLDU. ,similarity:Contains 2 RRM (RNA recognition motif) domains. ,subcellular location:Eliminated from nuclei of ubiquitinated inclusion-bearing neurons in FTLDU. ,subunit:Binds specifically to pyrimidine-rich motifs of TAR DNA and to single stranded TG repeated sequences. Binds to RNA , specifically to UG repeated sequences with a minimun of six contiguous repeats. ,tissue specificity:Ubiquitously expressed. In particular , expression is high in pancreas , placenta , lung , genital tract and spleen. ,

Nucleus

>>mRNA surveillance pathway ;
>>Amyotrophic lateral sclerosis ;
>>Pathways of neurodegeneration - multiple diseases