Reviewed August 2007
What is the official name of the ALS2 gene?
The official name of this gene is “amyotrophic lateral sclerosis 2 (juvenile).”
ALS2 is the gene's official symbol. The ALS2 gene is also known by other names, listed below.
What is the normal function of the ALS2 gene?
The ALS2 gene provides instructions for making a protein called alsin. Alsin is produced in a wide range of tissues, with highest amounts in the brain. It is particularly abundant in motor neurons, the specialized nerve cells in the brain and spinal cord that control the movement of muscles.
Alsin's function in cells is unclear. It may play a role in regulating cell membrane organization and the movement of molecules inside cells. Research findings also suggest that alsin may play a role in the development of axons and dendrites, which are specialized outgrowths from nerve cells that are essential for the transmission of nerve impulses.
How are changes in the ALS2 gene related to health conditions?
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amyotrophic lateral sclerosis - caused by mutations in the ALS2 gene
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Two ALS2 mutations that cause type 2 amyotrophic lateral sclerosis have been identified. These mutations delete a single DNA building block (nucleotide), which alters the instructions for producing alsin. As a result, alsin is unstable and decays rapidly.
It is unclear how the loss of alsin protein causes type 2 amyotrophic lateral sclerosis. Loss of alsin may disrupt the movement of essential molecules within cells or alter the development of axons and dendrites. Researchers suggest that the long axons of motor neurons may be particularly sensitive to altered development. As a result, motor neuron function declines and eventually these nerve cells die, leading to the signs and symptoms of type 2 amyotrophic lateral sclerosis.
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infantile-onset ascending hereditary spastic paralysis - caused by mutations in the ALS2 gene
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Researchers have identified several ALS2 mutations that cause infantile-onset ascending hereditary spastic paralysis. These mutations change or delete one or more DNA building blocks (nucleotides), which alters the instructions for producing alsin. As a result, alsin is unstable and decays rapidly.
It is unclear how the loss of alsin protein causes infantile-onset ascending hereditary spastic paralysis. Loss of alsin may disrupt the movement of essential molecules within cells or alter the development of axons and dendrites. Researchers suggest that the long axons of motor neurons may be particularly sensitive to altered development. As a result, motor neuron function declines and eventually these nerve cells die, leading to the signs and symptoms of infantile-onset ascending hereditary spastic paralysis.
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juvenile primary lateral sclerosis - caused by mutations in the ALS2 gene
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Researchers have identified three mutations in the ALS2 gene that cause juvenile primary lateral sclerosis. Two of these mutations delete DNA building blocks (nucleotides), and one mutation replaces one nucleotide with an incorrect nucleotide. These mutations alter the instructions for producing alsin. As a result, alsin is unstable and decays rapidly, or it is disabled and cannot function properly.
It is unclear how the loss of functional alsin protein causes juvenile primary lateral sclerosis. Loss of alsin may disrupt the movement of essential molecules within cells or alter the development of axons and dendrites. Researchers suggest that the long axons of motor neurons may be particularly sensitive to altered development. As a result, motor neuron function declines and eventually these nerve cells die, leading to the signs and symptoms of juvenile primary lateral sclerosis.
Where is the ALS2 gene located?
Cytogenetic Location: 2q33.2
Molecular Location on chromosome 2: base pairs 202,273,521 to 202,353,982
The ALS2 gene is located on the long (q) arm of chromosome 2 at position 33.2.
More precisely, the ALS2 gene is located from base pair 202,273,521 to base pair 202,353,982 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ALS2?
What other names do people use for the ALS2 gene or gene products?
- ALS2CR6
- ALS2_HUMAN
- ALSJ
- IAHSP
- KIAA1563
- PLSJ
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 ALS2?
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.