NBN

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Description

The NBN gene, also known as Nijmegen breakage syndrome 1 (NBS1), plays a crucial role in maintaining genomic stability. It encodes a protein that participates in the DNA damage response (DDR), a complex network of cellular pathways that repair damaged DNA and prevent mutations. NBN protein acts as a sensor of DNA double-strand breaks (DSBs), the most severe form of DNA damage, and facilitates the recruitment of other repair proteins to the site of damage. This intricate interplay ensures efficient repair of DSBs, protecting the genome from instability and preventing the development of various diseases.

Associated Diseases

• Nijmegen breakage syndrome (NBS): A rare genetic disorder characterized by severe developmental delays, immunodeficiency, and increased cancer susceptibility.
• Ataxia-telangiectasia-like disorder (ATLD): A milder form of NBS with similar but less severe symptoms.
• Breast cancer: NBN gene mutations have been linked to increased risk of breast cancer, particularly in individuals with a family history of the disease.
• Other cancers: Studies have associated NBN mutations with increased susceptibility to other cancers, including leukemia and lymphoma.

Did you know?

The NBN gene was first discovered in 1996 in patients with Nijmegen breakage syndrome, a rare genetic disorder characterized by extreme sensitivity to ionizing radiation.