Aprataxin is a DNA repair protein encoded by the *APTX* gene, playing a critical role in resolving DNA single-strand breaks (SSBs) and base excision repair (BER) pathways. It functions as a nucleotide hydrolase, correcting aberrant DNA ligation intermediates caused by abortive ligation attempts, thereby maintaining genomic stability. Mutations in *APTX* are linked to autosomal recessive neurodegenerative disorders, notably ataxia-oculomotor apraxia 1 (AOA1), characterized by progressive cerebellar atrophy, neuropathy, and hypersensitivity to DNA-damaging agents.
Antibodies targeting Aprataxin are essential tools for studying its expression, localization, and molecular interactions. They are widely used in techniques like Western blotting, immunofluorescence, and immunohistochemistry to assess protein levels in cell lines, tissues, or patient samples. These antibodies help elucidate Aprataxin’s role in DNA repair mechanisms, its interaction with repair complexes (e.g., XRCC1. PARP1), and its dysfunction in disease contexts.
Research applications also include investigating cellular responses to oxidative stress or ionizing radiation, where Aprataxin deficiency exacerbates genomic instability. Commercially available antibodies are typically validated for specificity using knockout controls or recombinant proteins. Reliable detection of Aprataxin aids in diagnosing AOA1 and understanding its pathogenesis, offering potential insights into therapeutic strategies for neurodegenerative and cancer-related DNA repair disorders.