Description
Product Characteristics:
ATM is a 370 kDa nuclear phosphoprotein involved in the autosomal recessive disease Ataxia Telangiectasia (AT). ATM belongs to a novel family of proteins associated with cell cycle regulation, apoptosis, and response to DNA damage repair (DNA damage caused by such things as ionizing irradiation activates ATM kinase). The C terminal region has extensive homology to the catalytic domains of Phosphatidylinositol 3 kinases (PI3 kinases).
Subcellular location: Cytoplasm, Nucleus
Synonyms: ATMSer1981, ATM phospho S1981, AT complementation group A, AT complementation group C, AT complementation group D, AT complementation group E, AT mutated, AT protein,AT1,ATA,Ataxia telangiectasia gene mutated in human beings, Ataxia telangiectasia mutated, ATC, ATDC, ATE, ATM, Human phosphatidylinositol 3 kinase homolog, Serine protein kinase ATM, T cell prolymphocytic leukemia, TEL1, TPLL.
Target Information: 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. [provided by RefSeq, Aug 2010]