ATM serine/threonine kinase
Última actualización 19 Sept 2022
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El ATM gene provides instructions for making a protein that is located primarily in the nucleus of cells, where it helps control the rate at which cells grow and divide. This protein also plays an important role in the normal development and activity of several body systems, including the nervous system and the immune system. Additionally, the ATM protein assists cells in recognizing damaged or broken DNA strands. DNA can be damaged by agents such as toxic chemicals or radiation. Breaks in DNA strands also occur naturally when chromosomes exchange genetic material during cell division. The ATM protein coordinates DNA repair by activating enzymes that fix the broken strands. Efficient repair of damaged DNA strands helps maintain the stability of the cell's genetic information.
Normal function
El ATM gene provides instructions for making a protein that is located primarily in the nucleus of cells, where it helps control the rate at which cells grow and divide. This protein also plays an important role in the normal development and activity of several body systems, including the nervous system and the immune system. Additionally, the ATM protein assists cells in recognizing damaged or broken DNA strands. DNA can be damaged by agents such as toxic chemicals or radiation. Breaks in DNA strands also occur naturally when chromosomes exchange genetic material during cell division. The ATM protein coordinates DNA repair by activating enzymes that fix the broken strands. Efficient repair of damaged DNA strands helps maintain the stability of the cell's genetic information.
Because of its central role in cell division and DNA repair, the ATM protein is of great interest in cancer research.
Conditions referring to this gene or chromosome
Otros nombres
AT mutated
AT protein
AT1
ATA
ataxia telangiectasia mutated
ATM_HUMAN
human phosphatidylinositol 3-kinase homolog
serine-protein kinase ATM
TEL1
TELO1
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Lecturas adicionales y referencias
- ATM serine/threonine kinase; MedlinePlus, National Library of Medicine.
- Ahmed M, Rahman N. ATM and breast cancer susceptibility. Oncogene. 2006 Sep 25;25(43):5906-11. doi: 10.1038/sj.onc.1209873.
- Bradbury JM, Jackson SP. ATM and ATR. Curr Biol. 2003 Jun 17;13(12):R468. doi: 10.1016/s0960-9822(03)00403-2. No abstract available.
- Geoffroy-Perez B, Janin N, Ossian K, Lauge A, Croquette MF, Griscelli C, Debre M, Bressac-de-Paillerets B, Aurias A, Stoppa-Lyonnet D, Andrieu N. Cancer risk in heterozygotes for ataxia-telangiectasia. Int J Cancer. 2001 Jul 15;93(2):288-93. doi: 10.1002/ijc.1329.
- Gumy-Pause F, Wacker P, Sappino AP. ATM gene and lymphoid malignancies. Leukemia. 2004 Feb;18(2):238-42. doi: 10.1038/sj.leu.2403221.
- Hall J. The Ataxia-telangiectasia mutated gene and breast cancer: gene expression profiles and sequence variants. Cancer Lett. 2005 Sep 28;227(2):105-14. doi: 10.1016/j.canlet.2004.12.001. Epub 2005 Jan 8.
- Kim JH, Kim H, Lee KY, Choe KH, Ryu JS, Yoon HI, Sung SW, Yoo KY, Hong YC. Genetic polymorphisms of ataxia telangiectasia mutated affect lung cancer risk. Hum Mol Genet. 2006 Apr 1;15(7):1181-6. doi: 10.1093/hmg/ddl033. Epub 2006 Feb 23.
- Kitagawa R, Kastan MB. The ATM-dependent DNA damage signaling pathway. Cold Spring Harb Symp Quant Biol. 2005;70:99-109. doi: 10.1101/sqb.2005.70.002.
- Kurz EU, Lees-Miller SP. DNA damage-induced activation of ATM and ATM-dependent signaling pathways. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):889-900. doi: 10.1016/j.dnarep.2004.03.029.
- Lavin MF, Birrell G, Chen P, Kozlov S, Scott S, Gueven N. ATM signaling and genomic stability in response to DNA damage. Mutat Res. 2005 Jan 6;569(1-2):123-32. doi: 10.1016/j.mrfmmm.2004.04.020.
- Lavin MF, Kozlov S. DNA damage-induced signalling in ataxia-telangiectasia and related syndromes. Radiother Oncol. 2007 Jun;83(3):231-7. doi: 10.1016/j.radonc.2007.04.032. Epub 2007 May 23.
- McKinnon PJ. ATM and ataxia telangiectasia. EMBO Rep. 2004 Aug;5(8):772-6. doi: 10.1038/sj.embor.7400210.
- Motoyama N, Naka K. DNA damage tumor suppressor genes and genomic instability. Curr Opin Genet Dev. 2004 Feb;14(1):11-6. doi: 10.1016/j.gde.2003.12.003.
- Prokopcova J, Kleibl Z, Banwell CM, Pohlreich P. The role of ATM in breast cancer development. Breast Cancer Res Treat. 2007 Aug;104(2):121-8. doi: 10.1007/s10549-006-9406-6. Epub 2006 Oct 24.
- Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, North B, Jayatilake H, Barfoot R, Spanova K, McGuffog L, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK); Easton DF, Stratton MR, Rahman N. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet. 2006 Aug;38(8):873-5. doi: 10.1038/ng1837. Epub 2006 Jul 9.
- Shiloh Y. ATM and related protein kinases: safeguarding genome integrity. Nat Rev Cancer. 2003 Mar;3(3):155-68. doi: 10.1038/nrc1011.
- Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, Byrd P, Taylor M, Easton DF. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst. 2005 Jun 1;97(11):813-22. doi: 10.1093/jnci/dji141.
- Yang J, Yu Y, Hamrick HE, Duerksen-Hughes PJ. ATM, ATR and DNA-PK: initiators of the cellular genotoxic stress responses. Carcinogenesis. 2003 Oct;24(10):1571-80. doi: 10.1093/carcin/bgg137. Epub 2003 Aug 14.
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