ATM Proteins and Enzymes

Germline mutations in the Ataxia Telangiectasia-mutated (ATM) gene lead to the multi-symptom disorder A-T (Ataxia Telangiectasia). Immunodeficiency, neurodegeneration, premature aging, sensitivity to ionizing radiation, and a predisposition to certain types of cancer characterize A-T. The protein product of the gene mutated in A-T is a large prot...