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Reviewed August 2012
What is the official name of the TARDBP gene?
The official name of this gene is “TAR DNA binding protein.”
TARDBP is the gene's official symbol. The TARDBP gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of 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. The TDP-43 protein attaches (binds) to DNA and regulates an activity called transcription, which is the first step in the production of proteins from genes. This protein can also bind to RNA, a chemical cousin of DNA, to ensure the RNA's stability. The TDP-43 gene is involved in processing molecules called messenger RNA (mRNA), which serve as genetic blueprints for making proteins. By cutting and rearranging mRNA molecules in different ways, the TDP-43 protein controls the production of different versions of certain proteins. This process is known as alternative splicing. The TDP-43 can influence various functions of a cell by regulating protein production.
The TARDBP gene is particularly active (expressed) during early development before birth when new tissues are forming. Many of the proteins whose production is influenced by the TDP-43 protein are involved in neuronal and organ development.
How are changes in the TARDBP gene related to health conditions?
Where is the TARDBP gene located?
Cytogenetic Location: 1p36.22
Molecular Location on chromosome 1: base pairs 11,072,461 to 11,085,548
The TARDBP gene is located on the short (p) arm of chromosome 1 at position 36.22.
More precisely, the TARDBP gene is located from base pair 11,072,461 to base pair 11,085,548 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about TARDBP?
You and your healthcare professional may find the following resources about TARDBP helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the TARDBP gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding TARDBP?
acids ; alternative splicing ; cell ; cell nucleus ; dementia ; DNA ; expressed ; gene ; messenger RNA ; motor ; mRNA ; mutation ; nucleus ; penetrance ; protein ; RNA ; sclerosis ; splicing ; transcription ; wasting
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.