About Mutations in the ATM Gene - Memorial Sloan Kettering Cancer Center
网页2023年7月17日 — If you both have a mutation in the ATM gene, which is rare, there’s a chance your child could be born with a serious condition called ataxia-telangiectasia (uh-TAK-see-uh-teh-LAN-jee-ek-TAY-zhuh), or AT. AT is a rare disorder that affects the nervous system, immune system, and other body systems.
The ATM Gene in Breast Cancer: Its Relevance in Clinical Practice
网页2021年5月13日 — The mutated form, the Ataxia-telangiectasia mutated (ATM) gene, is involved in cell cycle control, apoptosis, oxidative stress, and telomere maintenance, and its role as a risk factor for cancer development is well established.
ATM serine/threonine kinase - Wikipedia
网页ATM serine/threonine kinase or Ataxia-telangiectasia mutated, symbol ATM, is a serine / threonine protein kinase that is recruited and activated by DNA double-strand breaks (canonical pathway), oxidative stress, topoisomerase cleavage complexes, splicing intermediates, R-loops and in some cases by single-strand DNA breaks. [5]
ATM gene - MedlinePlus
网页The ATM gene provides instructions for making a protein that helps control the rate at which cells grow and divide. Learn about this gene and related health conditions.
ATM Gene - GeneCards | ATM Protein | ATM Antibody
网页2024年8月5日 — ATM (ATM Serine/Threonine Kinase) is a Protein Coding gene. Diseases associated with ATM include Ataxia-Telangiectasia and Mantle Cell Lymphoma . Among its related pathways are Homologous DNA Pairing and Strand Exchange and Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) .
网页When working correctly, tumor suppressor genes help to prevent cancer by controlling the growth and division of cells. • People born with an ATM pathogenic variant have only one working copy of the ATM gene, so their risk for cancer is higher than average.
Ataxia-telangiectasia: Symptoms, Causes and Outlook - Cleveland Clinic
网页Ataxia-telangiectasia (A-T), also known as Louis-Bar Syndrome, is a rare genetic condition that targets the nervous system, immune system and other systems throughout your body. The condition is neurodegenerative when cells in your body’s central nervous system progressively stop working.
Cellular functions of the protein kinase ATM and their ... - Nature
网页2021年8月24日 — The protein kinase ataxia telangiectasia mutated (ATM) is a master regulator of double-strand DNA break (DSB) signalling and stress responses.
ATM: Main Features, Signaling Pathways, and Its Diverse Roles in …
网页2021年5月30日 — ATM is a large gene with 66 exons and consists of multiple domains that allow its protein to directly interact with numerous regulators, partners, and downstream targets. In its N terminus, ATM contains a Nuclear Localization Signal that enables its nuclear translocation.
Ataxia-telangiectasia: MedlinePlus Genetics
网页The ATM gene provides instructions for making a protein that helps control cell division and is involved in DNA repair. This protein plays an important role in the normal development and activity of several body systems, including the nervous system and immune system.