XRRA1
Headline: Unveiling the Enigma of XRRA1: A Guardian of Genome Integrity
Introduction
Within each cell‘s nucleus lies a treasure trove of genetic information—our DNA. To safeguard this precious data from damaging agents, our bodies have evolved a vigilant guardian: the XRRA1 gene. Join us as we delve into the fascinating world of XRRA1, exploring its pivotal role in maintaining genomic stability.
Description of XRRA1
XRRA1 is a gene that furnishes instructions for producing a protein of the same name. This protein is a vital component of the base excision repair (BER) pathway, a molecular machinery that detects and corrects errors in DNA. XRRA1 works by binding to damaged DNA and aiding in the removal of damaged nucleotides, allowing for their replacement with correct ones.
Associated Diseases
Mutations in the XRRA1 gene have been linked to several inherited disorders, including:
- Ataxia-telangiectasia (A-T): A rare neurodegenerative condition characterized by immune deficiencies, progressive neurological deterioration, and an increased risk of cancer.
- Nijmegen breakage syndrome (NBS): Another rare inherited condition that affects the immune system, leading to an increased susceptibility to infections and chromosomal instability.
Did you Know ?
Individuals with A-T have an approximately 1000-fold increased risk of developing certain types of cancer, highlighting the profound impact of XRRA1 mutations on genomic stability.
