FANCA : FA complementation group A
Description
The FANCA gene plays a crucial role in DNA repair, particularly in the Fanconi anemia (FA) pathway, which is responsible for fixing DNA damage caused by crosslinking agents. This pathway is essential for maintaining genomic stability and preventing the accumulation of mutations that can lead to cancer. Mutations in the FANCA gene are the most common cause of FA, a rare genetic disorder characterized by bone marrow failure, developmental abnormalities, and an increased risk of cancer. Understanding the function of FANCA and the FA pathway is crucial for developing effective therapies for FA and other genetic disorders.
Associated Diseases
- Fanconi anemia (FA)
- Cancer (particularly leukemia, myelodysplastic syndromes, and head and neck cancer)
- Bone marrow failure
- Developmental abnormalities (e.g., skeletal malformations, microcephaly)
- Other genetic disorders with DNA repair defects
Did you know?
The FA pathway is named after Guido Fanconi, a Swiss pediatrician who first described the syndrome in 1927.
