Gene ATM
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Also known as
ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1Overview
ATM (ATM Serine/Threonine Kinase) encodes a protein kinase that plays a central role in the DNA damage response, particularly in detecting double-strand breaks and coordinating repair pathways. ATM is a master regulator of the cellular response to genotoxic stress, activating cell cycle checkpoints, DNA repair, and apoptosis pathways.Biallelic mutations in ATM cause ataxia-telangiectasia (A-T), a rare autosomal recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, radiation sensitivity, and elevated cancer risk. Heterozygous carriers of ATM mutations also have moderately increased cancer susceptibility, particularly for breast cancer, and may be more sensitive to radiation therapy.
Understanding your ATM genetic status is important for cancer risk assessment and treatment planning. Individuals with ATM variants may require modified screening protocols and should discuss radiation therapy implications with their healthcare providers. The gene's role in DNA repair makes it relevant for understanding oxidative stress responses.