ATR基因编码一种ATR丝氨酸/苏氨酸激酶，在DNA应激下作为DNA损伤传感器激活细胞周期检查点信号通路。ATR编码的蛋白可以磷酸化并激活参与抑制DNA复制和有丝分裂的几种蛋白，并且可以促进DNA修复，重组和细胞凋亡。ATR的胚系突变与癌症易感性和Seckel综合征相关，这是一种与中枢神经系统疾病有关的疾病。体细胞突变与微卫星不稳定性有关，并在结肠癌、尿路上皮癌、胃癌、子宫内膜癌和骨髓瘤中发现。

ATR (ataxia telangiectasia and Rad3-related protein) is a serine/threonine kinase involved in the DNA damage response. ATR responds to DNA damage and single-strand DNA by activating cell-cycle checkpoint and DNA repair pathways. It is also involved in regulating telomere maintenance, initiation of DNA replication and meiosis. Germline mutations of ATR are associated with cancer predisposition and Seckel syndrome, a condition associated with central nervous system disorders. Somatic mutations are associated with microsatellite instability and are found in colon cancer, urothelial cancer, gastric cancer, endometrial cancer and myelomas. 

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