The ATXN7 antibody is a crucial tool in studying spinocerebellar ataxia type 7 (SCA7), a rare neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the *ATXN7* gene. This mutation leads to an abnormally long polyglutamine (polyQ) tract in the ATXN7 protein, resulting in its aggregation and neuronal toxicity. ATXN7 is a subunit of the STAGA (SPT3-TAF9-ADA-GCN5 acetyltransferase) complex, which regulates transcription and histone modification. Antibodies targeting ATXN7 help researchers detect its expression, localization, and pathological accumulation in cellular and animal models, aiding in understanding SCA7 mechanisms.
These antibodies are widely used in techniques like Western blotting, immunohistochemistry, and immunofluorescence to analyze ATXN7 levels in tissues, particularly in the cerebellum and retina, which are most affected in SCA7. They also assist in studying mutant ATXN7's role in disrupting chromatin remodeling and promoting neurodegeneration. Additionally, ATXN7 antibodies are vital for validating gene therapy targets or small molecules designed to reduce toxic aggregates. Recent studies highlight their utility in differentiating between wild-type and mutant protein conformations, offering insights into disease progression and therapeutic efficacy.
Overall, ATXN7 antibodies serve as indispensable tools for both basic research and potential diagnostic applications, bridging molecular pathology with clinical insights in polyQ-related disorders.