Ataxia telangiectasia mutated

• OMIM: 607 585
• UniProt: Q13315

The serine protein kinase ATM is an enzyme in the cell nucleus of animal and fungal cells. It acts as a sensor of DNA damage, especially double-strand breaks. Damage caused by UV radiation ATM can be activated indirectly via ATR ( ataxia telangiectasia and Rad3 -related protein ).

ATM takes signal cascades to produce DNA repair proteins in motion. In severe damage may stop the cell cycle and induce cell death. In humans, ATM is expressed in many tissue types and has more functions when allele exclusion of B- cell maturation and possibly in vesicle. Mutations in the ATM gene are responsible for the Louis-Bar syndrome and contribute to the risk of various types of leukemia, breast cancer and lung cancer.

The term ATM is the abbreviation of ataxia telangiectasia mutated.

An inhibitor of said ATM kinase is caffeine.