FANCA抗体;FANCA Antibody—艾普蒂

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     Western blot analysis of FANCA expression in A431 cell lysate.    

  
  

The FANCA antibody is a crucial tool in studying Fanconi anemia (FA), a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and heightened cancer susceptibility. FANCA, a gene encoding a protein central to the FA pathway, plays a pivotal role in DNA repair, particularly in resolving interstrand crosslinks. Mutations in FANCA account for approximately 60-70% of FA cases, making it the most frequently mutated gene in this pathway. The FANCA protein forms part of the FA core complex, which monoubiquitinates FANCD2/FANCI to activate downstream DNA repair mechanisms.

FANCA antibodies are widely used in research to detect and quantify FANCA protein expression via techniques like Western blotting, immunofluorescence, and immunohistochemistry. These antibodies help elucidate FANCA's subcellular localization, interactions with other FA proteins, and dysregulation in FA patients or cancer models. Specificity and validation are critical, as they ensure accurate detection of FANCA variants or truncations linked to disease. Clinically, FANCA antibodies may aid in diagnosing FA by identifying protein deficiencies in patient-derived cells.

Beyond FA research, FANCA antibodies contribute to understanding cancer biology, as FA pathway defects impair genomic stability, predisposing individuals to malignancies like leukemia. They also support therapeutic development, such as monitoring FANCA restoration in gene therapy trials. Available in polyclonal or monoclonal forms from various host species, these antibodies remain indispensable for unraveling FA pathophysiology and its broader implications in DNA damage response.