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Reviewed May 2010
What is the official name of the TOR1A gene?
The official name of this gene is “torsin family 1, member A (torsin A).”
TOR1A is the gene's official symbol. The TOR1A 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 TOR1A gene?
The TOR1A gene (also known as DYT1) provides instructions for making a protein called torsinA. This protein is found in the space between two neighboring structures within cells, the nuclear envelope and the endoplasmic reticulum. The nuclear envelope surrounds the nucleus and separates it from the rest of the cell. The endoplasmic reticulum processes proteins and other molecules and helps transport them to specific destinations either inside or outside the cell. Although little is known about the function of torsinA, studies suggest that it may help process and transport other proteins. TorsinA may also participate in the movement of membranes associated with the nuclear envelope and endoplasmic reticulum.
TorsinA is active in many of the body's tissues, and it is particularly important for the normal function of nerve cells in the brain. For example, researchers have found high levels of torsinA in a part of the brain called the substantia nigra. This region contains nerve cells that produce dopamine, a chemical messenger that transmits signals within the brain to produce smooth physical movements.
How are changes in the TOR1A gene related to health conditions?
Where is the TOR1A gene located?
Cytogenetic Location: 9q34
Molecular Location on chromosome 9: base pairs 129,812,942 to 129,824,245
The TOR1A gene is located on the long (q) arm of chromosome 9 at position 34.
More precisely, the TOR1A gene is located from base pair 129,812,942 to base pair 129,824,245 on chromosome 9.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about TOR1A?
You and your healthcare professional may find the following resources about TOR1A 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 TOR1A 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 TOR1A?
amino acid ; autosomal ; autosomal dominant ; benign ; cell ; chaperone ; critical region ; deletion ; DNA ; dopamine ; dystonia ; endoplasmic reticulum ; gene ; mutation ; neuron ; nuclear envelope ; nucleus ; protein ; substantia nigra
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 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.