Reviewed June 2008
What is the official name of the SETX gene?
The official name of this gene is “senataxin.”
SETX is the gene's official symbol. The SETX gene is also known by other names, listed below.
What is the normal function of the SETX gene?
The SETX gene provides instructions for making a protein called senataxin. Senataxin is produced in a wide range of tissues, including the brain, spinal cord, and muscles. Based on the structure of senataxin, researchers believe that it is one of a class of proteins called helicases that are involved in DNA repair and the production of RNA, a chemical cousin of DNA. Helicases attach to particular regions of DNA and temporarily unwind the two spiral strands of a DNA molecule. By unwinding the strands near sites of DNA damage, helicases allow other proteins to reach damaged areas and fix them. Senataxin is thought to aid in DNA repair through this helicase mechanism. This mechanism may also be involved in RNA production.
How are changes in the SETX gene related to health conditions?
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amyotrophic lateral sclerosis - caused by mutations in the SETX gene
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Researchers have identified three SETX mutations that cause type 4 amyotrophic lateral sclerosis, a slowly progressive form of the disease that typically affects people under age 25. These mutations replace one of the protein building blocks (amino acids) used to make senataxin with an incorrect amino acid. This type of mutation may alter the 3-dimensional shape of senataxin and disrupt its normal function. It is unclear how mutations in the SETX gene cause type 4 amyotrophic lateral sclerosis.
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ataxia with oculomotor apraxia - caused by mutations in the SETX gene
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At least 17 mutations in the SETX gene have been found to cause ataxia with oculomotor apraxia type 2. Most of the mutations replace one of the amino acids used to make senataxin. A few mutations in the SETX gene lead to an abnormally short, nonfunctional version of the protein. Mutations in the SETX gene are thought to disrupt the helicase function of senataxin. A lack of functional senataxin can lead to an accumulation of DNA damage in cells, particularly affecting brain cells in the part of the brain involved in coordinating movements (the cerebellum). This accumulation can lead to cell death in the cerebellum, causing the characteristic movement problems of ataxia with oculomotor apraxia type 2.
Where is the SETX gene located?
Cytogenetic Location: 9q34.3
Molecular Location on chromosome 9: base pairs 134,129,103 to 134,220,192
The SETX gene is located on the long (q) arm of chromosome 9 at position 34.3.
More precisely, the SETX gene is located from base pair 134,129,103 to base pair 134,220,192 on chromosome 9.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SETX?
You and your healthcare professional may find the following resources about SETX helpful.
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- Gene Tests
- DNA tests ordered by healthcare professionals
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed
- Recent literature
- OMIM
- Genetic disorder catalog
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What other names do people use for the SETX gene or gene products?
- ALS4
- AOA2
- KIAA0625
- SCAR1
- SETX_HUMAN
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 SETX?
acids ;
amino acid ;
apraxias ;
ataxia ;
cell ;
cerebellum ;
class ;
DNA ;
DNA damage ;
DNA repair ;
gene ;
helicase ;
molecule ;
mutation ;
protein ;
RNA ;
sclerosis ;
tissue
You may find definitions for these and many other terms in the Genetics Home Reference
Glossary.
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.