ALS2

The ALS2 gene provides instructions to make a protein called alsin. The function of alsin is not yet clear, but it is thought to play a role in regulating cell membrane organization, movement of molecules inside the cell, and assembly of the network of filaments and tubules (cytoskeleton) that gives shape and structure to the cell contents. Alsin is produced in a wide range of cell types including motor neurons, the specialized nerve cells in the brain and spinal cord that control the movement of muscles, and in tissues outside the central nervous system.

amyotrophic lateral sclerosis, type 2 - caused by mutations in the ALS2 gene

One ALS2 mutation that causes type 2 amyotrophic lateral sclerosis has been identified. This mutation deletes 1 base pair (the building material of DNA) in a specific region of the gene (known as exon 3). This deletion creates a premature stop signal in the production of the protein, which results in an abnormally short version of alsin. The shortened alsin protein cannot function, but it remains unclear how this loss of function causes the death of motor neurons and the symptoms of amyotrophic lateral sclerosis, type 2.

infantile-onset ascending hereditary spastic paralysis - caused by mutations in the ALS2 gene

Several ALS2 mutations have been identified in patients with infantile-onset ascending hereditary spastic paralysis. These mutations change or delete 1 to 10 base pairs (the building components of DNA) in specific regions of the gene (known as exons 4, 6, 13, 15, 22, and 32). All the mutations cause the production of a shortened version of the alsin protein, which cannot function. It remains unclear how this loss of function causes the death of motor neurons and the symptoms of infantile-onset hereditary spastic paralysis.

primary lateral sclerosis, juvenile - caused by mutations in the ALS2 gene

Two mutations in the ALS2 gene that cause juvenile primary lateral sclerosis have been identified. Each mutation deletes 2 base pairs (the building components of DNA) in a specific region of the gene (known as exon 5 and exon 9). This deletion creates a premature stop signal in the production of the protein, which results in an abnormally short version of alsin. The shortened alsin protein cannot function, but it remains unclear how this loss of protein function causes the death of motor neurons and the symptoms of juvenile primary lateral sclerosis.

2q33.2

The ALS2 gene is located on the long (q) arm of chromosome 2 at position 33.2.

See How do geneticists indicate the location of a gene? in the Handbook.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

• PubMed - Recent literature
• OMIM - Genetic disorder catalog
• Research Resources - Tools for researchers (3 links)

See How are genetic conditions and genes named? in the Handbook.

The Handbook provides basic information about genetics in clear language.

• What is DNA?
• What is a gene?
• How does a gene make a protein?
• How can gene mutations cause disorders?

These links provide additional genetics resources that may be useful.

• Genetics education
• Human Genome Project
• Resources for Genetic Researchers

base pair ; cell membrane ; central nervous system ; cytoskeleton ; deletion ; DNA ; exon ; gene ; juvenile ; molecule ; motor neuron ; mutation ; nerve cell ; nervous system ; neuron ; protein ; sclerosis ; symptom

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.