ATM

ATM serine/threonine kinase, linked to ataxia-telangiectasia and cancer.

Associated Diseases

Ataxia-Telangiectasia and Cancer

Did you know

Ataxia-Telangiectasia is rare, with an estimated prevalence of 1 in 40,000 to 1 in 100,000 individuals.

The ATM gene (Ataxia Telangiectasia Mutated gene) is located on chromosome 11q22-23 in humans. It codes for a protein called ATM kinase, which is a key player in the DNA damage response pathway. When DNA damage occurs, ATM kinase is activated and initiates a cascade of signaling events that lead to cell cycle arrest, DNA repair, or apoptosis (programmed cell death) if the damage is too severe to be repaired.