ATR

Description

The ATR gene encodes a protein kinase that plays a crucial role in the DNA damage response (DDR) pathway. This intricate cellular mechanism safeguards our genetic material from damage caused by various sources, including radiation, chemicals, and cellular metabolism. Upon detecting DNA damage, ATR activates a cascade of downstream signaling events, ultimately leading to cell cycle arrest, DNA repair, or programmed cell death. This complex process ensures that damaged DNA is either repaired or eliminated, preventing the accumulation of mutations that could lead to cancer or other diseases.

Associated Diseases

• Ataxia telangiectasia
• Seckel syndrome
• Microcephalic primordial dwarfism
• Cancer predisposition
• Developmental disorders

Did you know?

ATR is a vital protein in maintaining genomic stability. Its deficiency can lead to a range of developmental and cancer-related disorders.