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ATM

ATM

Reviewed January 2013

What is the official name of the ATM gene?

The official name of this gene is “ATM serine/threonine kinase.”

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

The ATM gene provides instructions for making a protein that is located primarily in the nucleus of cells, where it helps control the rate at which cells grow and divide. This protein also plays an important role in the normal development and activity of several body systems, including the nervous system and the immune system. Additionally, the ATM protein assists cells in recognizing damaged or broken DNA strands. DNA can be damaged by agents such as toxic chemicals or radiation. Breaks in DNA strands also occur naturally when chromosomes exchange genetic material during cell division. The ATM protein coordinates DNA repair by activating enzymes that fix the broken strands. Efficient repair of damaged DNA strands helps maintain the stability of the cell's genetic information.

Because of its central role in cell division and DNA repair, the ATM protein is of great interest in cancer research.

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

ataxia-telangiectasia - caused by mutations in the ATM gene

Researchers have identified several hundred mutations in the ATM gene that cause ataxia-telangiectasia. People with this disorder have mutations in both copies of the ATM gene in each cell. Most of these mutations disrupt protein production, resulting in an abnormally small, nonfunctional version of the ATM protein. Cells without any functional ATM protein are hypersensitive to radiation and do not respond normally to DNA damage. Instead of activating DNA repair, the defective ATM protein allows mutations to accumulate in other genes, which may cause cells to grow and divide in an uncontrolled way. This kind of unregulated cell growth can lead to the formation of cancerous tumors. In addition, ATM mutations can allow cells to die inappropriately, particularly affecting cells in a part of the brain involved in coordinating movements (the cerebellum). This loss of brain cells causes the movement problems characteristic of ataxia-telangiectasia.

other cancers - increased risk from variations of the ATM gene

Research suggests that people who carry one mutated copy of the ATM gene in each cell may have an increased risk of developing several other types of cancer. In particular, some studies have shown that cancers of the breast, stomach, bladder, pancreas, lung, and ovaries occur more frequently in ATM mutation carriers than in people who do not carry these mutations. The results of similar studies, however, have been conflicting. Additional research is needed to clarify which other types of cancer, if any, are associated with ATM mutations.

Genetics Home Reference provides information about breast cancer, which is also associated with changes in the ATM gene.

Where is the ATM gene located?

Cytogenetic Location: 11q22-q23

Molecular Location on chromosome 11: base pairs 108,222,499 to 108,369,101

The ATM gene is located on the long (q) arm of chromosome 11 between positions 22 and 23.

The ATM gene is located on the long (q) arm of chromosome 11 between positions 22 and 23.

More precisely, the ATM gene is located from base pair 108,222,499 to base pair 108,369,101 on chromosome 11.

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

Where can I find additional information about ATM?

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

  • AT1
  • ATA
  • ataxia telangiectasia mutated
  • ataxia telangiectasia mutated (includes complementation groups A, C and D)
  • ataxia telangiectasia mutated protein
  • ATC
  • ATD
  • ATDC
  • ATE
  • ATM_HUMAN
  • AT mutated
  • AT protein
  • human phosphatidylinositol 3-kinase homolog
  • serine-protein kinase ATM
  • TEL1
  • TELO1

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 ATM?

ataxia ; cancer ; cell ; cell division ; cerebellum ; DNA ; DNA damage ; DNA repair ; gene ; immune system ; kinase ; mutation ; nervous system ; nucleus ; pancreas ; protein ; radiation ; serine ; stomach ; telangiectasia ; threonine ; threonine kinase ; toxic

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

See also Understanding Medical Terminology.

References (18 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: January 2013
Published: September 1, 2015