What does TARDBP stand for?
What does TARDBP stand for?
TARDBP (TAR DNA Binding Protein) is a Protein Coding gene. Diseases associated with TARDBP include Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia and Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1.
What is SOD1 gene?
The SOD1 gene provides instructions for making an enzyme called superoxide dismutase, which is abundant in cells throughout the body. This enzyme attaches (binds) to molecules of copper and zinc to break down toxic, charged oxygen molecules called superoxide radicals.
What is the TARDBP gene?
The TARDBP gene provides instructions for making a protein called transactive response DNA binding protein 43 kDa (TDP-43). This protein is found within the cell nucleus in most tissues and is involved in many of the steps of protein production.
What chromosome is the TARDBP gene on?
It is encoded by the TARDBP gene on chromosome 1, and contains a nuclear-localization signal, two RNA-binding motifs, and a glycine-rich region, which contains a “prion-like” domain and mediates protein and heterogeneous nuclear ribonucleoproteins (hnRNP) interactions.
Is tdp43 a prion?
Recent studies have shown that, like tau and α-synuclein, TAR-DNA binding protein of 43 kDa (TDP-43) can form aggregates in vitro in a seed-dependent, self-templating, prion-like manner.
Does everyone have the SOD1 gene?
Superoxide dismutase [Cu-Zn] also known as superoxide dismutase 1 or SOD1 is an enzyme that in humans is encoded by the SOD1 gene, located on chromosome 21. SOD1 is one of three human superoxide dismutases….
| SOD1 | ||
|---|---|---|
| showRNA expression pattern | ||
| showGene ontology | ||
| Orthologs | ||
| Species | Human | Mouse |
What does the SOD1 gene do in ALS?
Where is TDP-43 protein found?
Transactive response DNA-binding protein 43 (TDP-43) is the pathological protein found in frontotemporal lobar degeneration with ubiquitin positive inclusions and in amyotrophic lateral sclerosis. In diseased tissue, TDP-43 translocates from its physiological nuclear location into the cytoplasm, where it accumulates.
Is TDP-43 a prion?
https://www.youtube.com/watch?v=_WbDo0ozPDY
