FANCA (Fanconi anemia group A protein): FANCA is a critical component of the Fanconi anemia (FA) pathway, a DNA repair mechanism essential for maintaining genomic stability and preventing chromosomal instability. This protein is involved in the activation of the FA core complex, which functions in the recognition and repair of DNA interstrand crosslinks (ICLs). ICLs are highly toxic DNA lesions that can block DNA replication and transcription, leading to genome instability and cell death if left unrepaired. FANCA plays a pivotal role in coordinating the assembly of the FA core complex and its recruitment to sites of DNA damage, where it facilitates the repair of ICLs through various mechanisms, including homologous recombination. Dysregulation or mutations in FANCA are associated with Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and an increased risk of cancer. Understanding the molecular mechanisms underlying FANCA-mediated DNA repair is crucial for developing targeted therapies for Fanconi anemia and potentially other diseases associated with defective DNA repair pathways.


Test(s) that measure/test for FANCA

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