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ATM
SNP Table
| variant | genotype | frequency | risk allele |
|---|---|---|---|
| rs228590 | |||
| rs748840480 | |||
| rs587779813 | |||
| rs587781347 | |||
| rs189037 | |||
| rs228591 | |||
| rs625120 | |||
| rs1003623 | |||
| rs1003624 | |||
| rs11212579 | |||
| rs172927 | |||
| rs228592 | |||
| rs228594 | |||
| rs3218681 | |||
| rs4987982 | |||
| rs582157 | |||
| rs592955 | |||
| rs599406 | |||
| rs600329 | |||
| rs600691 |
Find on This Page
Summary
The ATM gene encodes a protein that helps control the rate at which cells grow and divide. It also plays a role in the development and activity of the nervous system and the immune system. It also helps recognize damaged or broken DNA strands and helps activate enzymes that fix the broken strands (R).
Mutations can increase the risk of developing cancer (R).
Protein names
Found in These Blog Articles
GHR Function
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.
More Information
The ATM gene codes for ATM serine/threonine kinase (ATM), an enzyme that adds phosphate molecules to proteins in order to alter their function [R, R].
ATM has been shown to sense damaged DNA strands and subsequently activate enzymes that promote their repair. ATM may also be able to regulate the division rates of cells by activating CHK2, an enzyme involved in cell cycle control [R, R, R].
In a type of skin cancer called melanoma, DNA-damaged cells divide and proliferate uncontrollably [R].
A variant of ATM has been associated with melanoma. This variant may lower ATM activity, resulting in cumulative DNA damage and uncontrolled cell proliferation [R, R, R].
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