ATM:This is the symbol for the telangiectasia mutated gene, responsible for producing a protein that regulates cell growth. The ATM protein achieves this by sending signals and altering proteins within the cell, thus changing their function. It also collaborates with other proteins, like BRCA1, to address DNA damage caused by various factors. When DNA strands break, the ATM protein organizes their repair by activating other proteins, ensuring the genome's stability. Given its crucial role in cell division and DNA repair, the ATM protein is vital to understanding cancer biology.Mutations in the ATM gene lead to ataxia-telangiectasia, a disorder where individuals inherit two defective copies of the ATM gene. The resulting protein is truncated and malfunctions, making cells overly sensitive to radiation and unable to respond correctly to DNA damage. Instead of initiating repair, the faulty ATM protein allows mutations to build up in other genes and may cause cells, particularly those in the cerebellum, to die improperly. Individuals with a single mutated ATM gene copy, especially those with a family history of ataxia-telangiectasia, might face an increased risk of developing certain conditions.The ATM gene is found on chromosome 11q22.3 and encodes a protein that is part of the PI3/PI4-kinase family. This protein acts as a cell cycle checkpoint kinase that phosphorylates and regulates a variety of downstream proteins, including tumor suppressors like p53 and BRCA1, checkpoint kinases like CHK2, and repair proteins such as RAD17, RAD9, and NBS1. The ATM protein, along with the related kinase ATR, is considered a master regulator of the cell cycle checkpoint signaling pathways essential for cellular responses to DNA damage and maintaining genome stability.
