ATM

The protein made by the ATM gene resides predominantly in the nucleus of a cell and normally functions to control the rate at which cells grow. The ATM protein does this by sending signals and modifying proteins in the cell, which then alters the function of the proteins. This protein also interacts with other proteins (for example BRCA1) to respond when DNA is damaged as a result of exposure to some type of radiation. If the strands of DNA are broken, the ATM protein coordinates DNA repair by activating other proteins. This function helps to maintain the stability of the cell's genome. Because of its central role in cell division and DNA repair, the ATM protein is very important to understanding cancer biology.

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 carry two mutated copies of ATM. The mutated ATM gene makes a protein that does not function properly because it is abnormally short. As a result, the cells are hypersensitive to radiation and do not respond correctly to DNA damage. Instead of activating DNA repair, the defective ATM protein allows mutations to accumulate in other genes, which may lead to cancer. In addition, ATM mutations can allow cells to die inappropriately, particularly in a part of the brain involved in coordinating movements (the cerebellum). This defect causes many of the movement problems seen in ataxia-telangiectasia.

breast cancer - increased risk from variations of the ATM gene

Research has shown that people who have mutations in one copy of the ATM gene—particularly those who have at least one family member with ataxia-telangiectasia—are at an increased risk of developing breast cancer. The connection between ATM mutations and cancer is not yet well understood. As a result of the mutations in ATM, many of the body's cells are unable to correctly repair damaged DNA. The buildup of DNA damage within cells probably allows cancerous tumors to develop.

11q22.3

The ATM gene is located on the long (q) arm of chromosome 11 at position 22.3.

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

You and your healthcare professional may find the following resources about ATM helpful.

• Educational resources - Information pages
  NCI Genetics of Breast and Ovarian Cancer
• Gene Tests - DNA tests ordered by healthcare professionals

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

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

ataxia ; cancer ; cell division ; cerebellum ; DNA ; DNA damage ; DNA repair ; gene ; genome ; homologs ; kinase ; mutation ; nucleus ; protein ; Radiation ; serine ; telangiectasia ; tumor

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