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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 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 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 (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) .
People who inherit a mutation in both copies of their ATM gene—one from each parent—have a rare disease known as Ataxia-Telangiesctasia. Learn additional information about inherited ATM mutations.
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.
The protein kinase ataxia telangiectasia mutated (ATM) is a master regulator of double-strand DNA break (DSB) signalling and stress responses.
ATM encodes a serine/threonine kinase, serine-protein kinase ATM, that is a member of the family of phosphoinositide 3-kinases. Some of these kinases, including ATM, are involved in DNA damage response and repair.
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.
Ataxia-telangiectasia (A-T) is a rare inherited form of autosomal recessive neurodegenerative ataxia with onset in early childhood. Clinically, this syndrome manifests a combination of neurological and systemic symptoms due to the mutation of the ataxia-telangiectasia mutated (ATM) gene.