毛细血管扩张性共济失调症突变蛋白抗体

毛细血管扩张性共济失调症突变蛋白抗体 Background: 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). Also known as: ataxia telangiectasia mutated; 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; ATC; ATDC; ATE; ATM; DKFZp781A0353; Human phosphatidylinositol 3 kinase homolog; MGC74674; Serine protein kinase ATM; T cell prolymphocytic leukemia; TEL1; TPLL.