Gene Accession

Q13315

Gene Alias

Protein names Recommended name Serine-protein kinase ATM EC number EC:2.7.11.1 6 Publications (UniProtKB | ENZYME | Rhea) Alternative names Ataxia telangiectasia mutated (A-T mutated) Gene names Name ATM

Background

Germ-line mutations of the ataxia telangiectasia mutated (ATM) gene result in the well-characterized ataxia telangiectasia syndrome, which manifests with an increased cancer predisposition, including a 20% to 30% lifetime risk of lymphoid, gastric, breast, central nervous system, skin, and other cancers. Somatic ATM mutations or deletions are commonly found in lymphoid malignancies, as well as a variety of solid tumors. Such mutations may result in chemotherapy resistance and adverse prognosis, but may also be exploited by existing or emerging targeted therapies that produce synthetic lethal states.