A A A+ A- A0 A1 A2 A3 A4 A5 A6 A7 A8 A9 AA AB AC AD AE AF AG AH AI AJ AK AL AM AN AO AP AQ AR AS AT AU AV AW AX AY AZ
AT Mutated
[Ataxia Telangiectasia Mutated Protein, encoded by the ATM gene, belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates and 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 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, which results in a defect in cell cycle regulation and DNA repair. Mutations are also associated with sensitivity to DNA damaging agents such as ionizing radiation. At least 3 alternatively spliced transcript variants encoding distinct isoforms, have been identified. (from LocusLink) ( NCI )]
UMLS (NCI) C0298973- Amino Acid, Peptide, or Protein
- Enzyme
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