| umls-concept:C1705846 | skos:definition | NCI: Human ATM wild-type allele is located within 11q22-q23 and is approximately 143 kb in length. This allele, which encodes serine-protein kinase ATM protein, plays a critical role in cell cycle checkpoint signaling pathways required for cellular response to DNA damage and maintenance of genomic stability. Defects in the ATM gene cause ataxia telangiectasia and contribute to certain cancers such as T-cell acute lymphoblastic leukemia, B-cell chronic lymphocytic leukemia and B-cell non-Hodgkin lymphomas. | lld:umls |
