TDP43/TAR DNA binding protein-43 [3H8]

TDP43 or TAR DNA-binding protein 43 belongs to the hnRNP protein family and plays an important role in transcription, pre-mRNA splicing, mRNA stability and mRNA transport. It is involved in splicing of the apolipoprotein A-II and cystic fibrosis transmembrane gene. It is also is involved in transcriptional regulation and exon splicing. While normal TDP43 is a nuclear protein, pathological TDP43 is a component of insoluble aggregates in patients with frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). This protein is highly expressed in the pancreas, placenta, lung, genital tract and spleen. Mutations in TDP43 have been associated with amyotrophic lateral sclerosis, frontotemporal dementia, Parkinson’s disease and Alzheimer’s disease.