FANCE

FANCE

FANCE is a gene that encodes a protein involved in the Fanconi anemia (FA) pathway, which is crucial for DNA repair processes. Mutations in this gene can lead to Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, increased cancer risk, and physical abnormalities.

Function

The FANCE protein is a component of the Fanconi anemia core complex, which is essential for the activation of the FA pathway. This pathway is responsible for repairing DNA interstrand crosslinks, a type of DNA damage that can interfere with replication and transcription. The FANCE protein interacts with other FA proteins, such as FANCC and FANCF, to facilitate the monoubiquitination of the FANCD2 and FANCI proteins, a critical step in the DNA repair process.

Clinical Significance

Mutations in the FANCE gene can result in Fanconi anemia, complementation group E (FA-E). Individuals with FA-E typically present with symptoms such as pancytopenia, congenital abnormalities, and an increased risk of developing acute myeloid leukemia and other cancers. Genetic testing for mutations in the FANCE gene can aid in the diagnosis of Fanconi anemia and help guide treatment options.

Research

Ongoing research is focused on understanding the precise molecular mechanisms by which FANCE and other FA proteins coordinate DNA repair. Studies are also exploring potential therapeutic approaches, such as gene therapy and hematopoietic stem cell transplantation, to treat individuals with Fanconi anemia.

See Also

• Fanconi anemia
• DNA repair
• Genetic disorders

External Links

• FANCE Gene - NCBI
• FANCE - Genetics Home Reference