The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder.
Aliases AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1
Entrez GeneID 472
Swissprot Q13315
WB Predicted band size 350.7kDa
Host/Isotype Mouse IgG2b
Species Reactivity Human, Mouse, Monkey, Rat
Immunogen Purified recombinant fragment of human ATM (AA: 2577-3056) expressed in E. Coli.
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