Ataxia telangiectasia and Rad3 related

Ataxia telangiectasia and Rad3 related (ATR) is a protein that in humans is encoded by the ATR gene. ATR belongs to the PI3/PI4-kinase family, a group of enzymes involved in cell cycle regulation and DNA damage response.

Function

ATR is an essential regulator of cellular responses to DNA damage and replication stress. It is activated in response to single-strand DNA breaks, which often arise due to stalled DNA replication forks. Once activated, ATR phosphorylates several key proteins that initiate activation of the DNA damage checkpoint, leading to cell cycle arrest, DNA repair or apoptosis.

Clinical significance

Mutations in the ATR gene are associated with Seckel syndrome, a rare autosomal recessive disorder characterized by growth retardation, microcephaly, and a bird-like face. ATR is also implicated in the pathogenesis of several types of cancer, including colorectal cancer, breast cancer, and lung cancer.

Research

Research on ATR has focused on its role in the DNA damage response and its potential as a therapeutic target in cancer. Several ATR inhibitors are currently in clinical trials for the treatment of various types of cancer.

See also

• Ataxia telangiectasia
• DNA damage (naturally occurring)
• DNA repair
• Cell cycle checkpoint