ADSL : adenylosuccinate lyase
Description
The ADSL gene provides instructions for making a protein called anti-silencing factor 1 (ASF1). ASF1 plays a vital role in DNA replication and repair, acting as a histone chaperone that helps assemble and remodel nucleosomes, the basic structural units of chromatin. These processes are essential for proper cell division and maintaining the integrity of our genetic material.
Associated Diseases
- Fanconi anemia (FA): Mutations in ADSL are linked to a rare genetic disorder characterized by bone marrow failure, developmental abnormalities, and an increased risk of cancer.
- Neurodevelopmental disorders: Some studies suggest a possible association between ADSL variants and neurodevelopmental disorders, but further research is needed.
- Cancer susceptibility: The role of ADSL in DNA repair suggests a potential link to cancer susceptibility, but the specific implications require further investigation.
Did you know?
Mutations in ADSL are rare, but their impact on DNA replication and repair highlights the delicate balance of cellular processes.
