EXO1
Exo1: A Critical Player in DNA Repair
Description
Exo1, short for exonuclease 1, is an enzyme responsible for processing DNA ends during the critical process of DNA repair. It's a 5'-3' exonuclease, meaning it degrades DNA from the 5' end towards the 3' end. Exo1 plays a crucial role in various DNA repair pathways, including DNA mismatch repair and base excision repair.
Associated Diseases
Mutations in the EXO1 gene have been linked to several human diseases, highlighting its critical role in maintaining genomic integrity. These diseases include:
- Lynch syndrome: A hereditary condition characterized by an increased risk of colon and other types of cancer.
- Breast cancer: Mutations in EXO1 have been associated with an increased risk of developing breast cancer.
- Ovarian cancer: Women with certain EXO1 mutations have a higher susceptibility to ovarian cancer.
Did you Know ?
Approximately 1 in 200 individuals carry a germline mutation in the EXO1 gene, underlining its prevalence and potential impact on human health.
