ATR
MIM.601215 3q22-q24
Members of the PIK (phosphatidylinositol kinase)-related kinase family are high molecular weight kinases involved in cell cycle progression, DNA recombination, and the detection of DNA damage.
The human ATM gene (MIM.607585) is defective in cells of patients with ataxia-telangiectasia (MIM. 208900). ATM is involved in detection and response of cells to damaged DNA and is a member of this family. Another member is ATR (FRAP) (MIM.601231), involved in a rapamycin-sensitive pathway leading to G1 cell cycle progression.
Pathology
germline mutations in Seckel syndrome (MIM.210600)
Free references
Yang J, Xu ZP, Huang Y, Hamrick HE, Duerksen-Hughes PJ, Yu YN. ATM and ATR: sensing DNA damage. World J Gastroenterol. 2004 Jan 15;10(2):155-60. PMID: 14716813