TARDBP Human
Description
Product Specs
Product Science Overview
TDP-43 consists of four main domains :
- N-terminal domain (NTD): Spanning residues 1–76, this domain is involved in dimerization and oligomerization, which are essential for its function in pre-mRNA splicing .
- RNA recognition motifs (RRM1 and RRM2): These highly conserved domains, spanning residues 106–176 and 191–259 respectively, are required for binding target RNA and DNA .
- C-terminal domain (CTD): Encompassing residues 274–414, this unstructured domain contains a glycine-rich region involved in protein-protein interactions and harbors most of the mutations associated with familial amyotrophic lateral sclerosis (ALS) .
The protein also has a nuclear localization signal (NLS) and a nuclear export signal (NES), which regulate its transport between the nucleus and cytoplasm .
TDP-43 is predominantly localized in the nucleus, where it functions in RNA transcription, splicing, transport, and stability . It also localizes to cytoplasmic stress granules following cell stress and may play a role in stress granule formation .
In pathological conditions, TDP-43 is aberrantly expressed in most forms of ALS and frontotemporal lobar degeneration (FTLD) . In these cases, it is absent from the nucleus and accumulates in the cytoplasm, forming ubiquitin-containing inclusion bodies . This mislocalization and aggregation are associated with neurodegenerative processes.
Recombinant human TDP-43 is produced using E. coli expression systems . It is typically supplied as a solution in HEPES, NaCl, DTT, glycerol, and urea . The recombinant protein is used in various research applications, including studies on ALS and FTLD, as well as investigations into RNA processing and metabolism .
