Normally inoled in the response to stress and repair of DNA, ATM is mutated in the rare genetic disorder ataxia-telangiectasia (AT).

• ATM正常情况下参与应激反应和DNA修复，在罕见的遗传性紊乱疾病--共济失调性毛细血管扩张症（AT）中，ATM发生变异。