The many substrates and functions of ATM.
As its name suggests, the ATM--'ataxia-telangiectasia, mutated'--gene is responsible for the rare disorder ataxia-telangiectasia. Patients show various abnormalities, mainly in their responses to DNA damage, but also in other cellular processes. Although it is hard to understand how a single gene product is involved in so many physiological processes, a clear picture is starting to emerge.
Kastan
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Department of Hematology-Oncology, Saint Jude Children's Research Hospital, D1034, 332 North Lauderdale Street, Memphis, Tennessee 38105, USA. michael.kastan@stjude.org
Lim
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D000595:Amino Acid Sequence; D000818:Animals; D001260:Ataxia Telangiectasia / Q000175:diagnosis / Q000235:genetics; D064007:Ataxia Telangiectasia Mutated Proteins; D002453:Cell Cycle; D018797:Cell Cycle Proteins; D004249:DNA Damage; D004260:DNA Repair; D004268:DNA-Binding Proteins; D006801:Humans; D008954:Models, Biological; D008969:Molecular Sequence Data; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics / Q000378:metabolism* / Q000502:physiology*; D017386:Sequence Homology, Amino Acid; D025521:Tumor Suppressor Proteins
D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases