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Reviewed August 2012
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.
Read more about gene names and symbols on the About page.
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. This protein is particularly abundant in motor neurons, the specialized nerve cells in the brain and spinal cord that control the movement of muscles.
Alsin appears to have many functions, only a few of which are known. Alsin turns on (activates) multiple proteins called GTPases that convert a molecule called GTP into another molecule called GDP. GTPases play important roles in cell division, the process by which cells mature to carry out specific functions (differentiation), and the self-destruction of cells (apoptosis). Alsin is also thought to play a role in cell membrane organization and the transport of molecules from the cell membrane to the interior of the cell (endocytosis). 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.
Does the ALS2 gene share characteristics with other genes?
The ALS2 gene belongs to a family of genes called ARHGEF (Rho guanine nucleotide exchange factors).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the ALS2 gene related to health conditions?
Where is the ALS2 gene located?
Cytogenetic Location: 2q33.1
Molecular Location on chromosome 2: base pairs 201,700,262 to 201,781,171
The ALS2 gene is located on the long (q) arm of chromosome 2 at position 33.1.
More precisely, the ALS2 gene is located from base pair 201,700,262 to base pair 201,781,171 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ALS2?
You and your healthcare professional may find the following resources about ALS2 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 ALS2 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 ALS2?
apoptosis ; axons ; cell ; cell division ; cell membrane ; differentiation ; DNA ; endocytosis ; gene ; GTP ; juvenile ; molecule ; motor ; motor neuron ; mutation ; neuron ; nucleotide ; protein ; sclerosis ; wasting
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (13 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.