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ARMS2

ARMS2

Reviewed June 2011

What is the official name of the ARMS2 gene?

The official name of this gene is “age-related maculopathy susceptibility 2.”

ARMS2 is the gene's official symbol. The ARMS2 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 ARMS2 gene?

The ARMS2 gene provides instructions for making a protein whose function is unknown. Studies suggest that the ARMS2 protein is found primarily in the placenta and in the specialized light-sensing tissue in the back of the eye (the retina). However, it is unclear what role, if any, the protein plays in early development or normal vision.

How are changes in the ARMS2 gene related to health conditions?

age-related macular degeneration - associated with the ARMS2 gene

The ARMS2 gene is located on the long (q) arm of chromosome 10 in a region known as 10q26. This region has been strongly associated with the risk of developing age-related macular degeneration, a common cause of vision loss in older adults. Researchers have identified several variations (polymorphisms) in and near the ARMS2 gene that may explain the association between the 10q26 region and age-related macular degeneration. The best-studied of these variations, known as rs10490924, alters a single protein building block (amino acid) in the ARMS2 protein. Another common variation, a complex change that deletes a segment of the ARMS2 gene and inserts new genetic material, may also contribute to disease risk.

It is unclear how polymorphisms in the ARMS2 gene might be related to age-related macular degeneration. In the 10q26 region, the ARMS2 gene is located next to a gene called HTRA1; changes in this gene have also been studied as a risk factor for the disease. Because the two genes are so close together, it is difficult to tell whether changes in one gene or the other, or possibly changes in both genes, account for the increased disease risk. Age-related macular degeneration is a complex condition that likely results from a combination of multiple genetic and environmental factors.

Where is the ARMS2 gene located?

Cytogenetic Location: 10q26.13

Molecular Location on chromosome 10: base pairs 122,454,662 to 122,457,351

The ARMS2 gene is located on the long (q) arm of chromosome 10 at position 26.13.

The ARMS2 gene is located on the long (q) arm of chromosome 10 at position 26.13.

More precisely, the ARMS2 gene is located from base pair 122,454,662 to base pair 122,457,351 on chromosome 10.

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

Where can I find additional information about ARMS2?

You and your healthcare professional may find the following resources about ARMS2 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 ARMS2 gene or gene products?

  • age-related maculopathy susceptibility protein 2
  • ARMD8
  • ARMS2_HUMAN
  • LOC387715

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 ARMS2?

amino acid ; chromosome ; epithelium ; gene ; pigment ; placenta ; protein ; retina ; susceptibility ; tissue

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

See also Understanding Medical Terminology.

References (8 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.

 
Reviewed: June 2011
Published: April 17, 2014