Reviewed August 2007
What is the official name of the SOD1 gene?
The official name of this gene is “superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult)).”
SOD1 is the gene's official symbol. The SOD1 gene is also known by other names, listed below.
What is the normal function of the SOD1 gene?
The SOD1 gene provides instructions for making an enzyme called superoxide dismutase that is abundant in cells throughout the body. This enzyme neutralizes supercharged oxygen molecules (superoxide radicals), which can damage cells if their levels are not controlled. Superoxide radicals are byproducts of normal cell processes, particularly energy-producing reactions that occur in specialized structures called mitochondria. To function properly, the superoxide dismutase enzyme must bind to copper and zinc.
How are changes in the SOD1 gene related to health conditions?
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amyotrophic lateral sclerosis - caused by mutations in the SOD1 gene
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More than 100 SOD1 mutations that cause type 1 amyotrophic lateral sclerosis have been identified. Most of these mutations change one of the building blocks (amino acids) used to make the enzyme superoxide dismutase. The most common mutation among Americans with type 1 amyotrophic lateral sclerosis replaces the amino acid alanine with the amino acid valine at position 4 in the enzyme. (This mutation is written as Ala4Val or A4V). Other types of mutations result in an enzyme of abnormal size.
The superoxide dismutase enzyme probably gains new, but harmful, properties when altered by SOD1 mutations. It is unclear why nerve cells in the brain and spinal cord that control muscle movement (motor neurons) are particularly sensitive to SOD1 mutations. Researchers have suggested several ways in which the altered enzyme may cause the death of motor neurons. These possibilities include an accumulation of harmful superoxide radicals, increased production of other types of toxic radicals, abnormal mitochondria that cannot meet the high energy demands of motor neurons, promotion of cell suicide (apoptosis), formation of clumps (aggregates) of misfolded superoxide dismutase that are toxic, or the continued stimulation of nerve cells that causes them to burn out and die (excitotoxicity).
Where is the SOD1 gene located?
Cytogenetic Location: 21q22.1
Molecular Location on chromosome 21: base pairs 31,953,805 to 31,963,114
The SOD1 gene is located on the long (q) arm of chromosome 21 at position 22.1.
More precisely, the SOD1 gene is located from base pair 31,953,805 to base pair 31,963,114 on chromosome 21.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SOD1?
What other names do people use for the SOD1 gene or gene products?
- ALS1
- Cu/Zn superoxide dismutase
- indophenoloxidase A
- IPOA
- SODC_HUMAN
- superoxide dismutase-1, soluble
- superoxide dismutase, cystolic
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 SOD1?
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.