| Gene Symbol |
ATM
|
| Gene Synonyms |
AT1 ATA ATC ATD ATE ATDC TEL1 TELO1 |
| Gene Full Name |
ATM serine/threonine kinase |
| Gene Summary |
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] |
| Alternative Names |
A-T mutated A-T mutated homolog AT mutated AT1 ATA Ataxia telangiectasia mutated Ataxia telangiectasia mutated gene Ataxia telangiectasia mutated homolog (human) Ataxia telangiectasia mutated homolog ATC ATD ATDC ATE ATM ATM serine/threonine kinase ATM_HUMAN DKFZp781A0353 MGC74674 OTTHUMP00000232981 Serine protein kinase ATM Serine-protein kinase ATM Serine/threonine-protein kinase ATM Tefu TEL1 TEL1 telomere maintenance 1 homolog TELO1 Telomere fusion protein
|
| Molecular Weight(MW) |
351 kDa |
| Cellular Localization |
Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Nucleus, Peroxisome |