Rabbit Polyclonal NHLRC1 Antibody

The NHLRC1 antibody is a crucial tool in studying the function of NHLRC1 (NHL Repeat Containing E3 Ubiquitin Protein Ligase 1), a gene encoding the malin protein. Malin, in collaboration with laforin, forms an E3 ubiquitin ligase complex critical for glycogen metabolism regulation. Mutations in NHLRC1 are linked to Lafora disease, a fatal progressive myoclonus epilepsy characterized by toxic polyglucosan aggregates (Lafora bodies) in neurons and other tissues. NHLRC1 antibodies are widely used to detect malin expression in research settings, aiding in understanding its role in glycogen synthesis, protein quality control, and neurodegeneration. These antibodies enable techniques like Western blotting, immunohistochemistry, and immunofluorescence to visualize malin localization (primarily cytoplasmic) and expression levels in cell lines, animal models, or patient samples. Commercially available NHLRC1 antibodies are typically monoclonal or polyclonal, targeting specific epitopes to distinguish wild-type from mutant variants. Their applications extend to studying disease mechanisms in Lafora disease models, such as malin-deficient mice or zebrafish, and exploring therapeutic strategies like gene therapy. Validation via knockout controls or siRNA knockdown is essential due to potential cross-reactivity with homologous proteins. NHLRC1 antibodies also contribute to diagnostic workflows for confirming NHLRC1 mutations in suspected Lafora disease cases, complementing genetic testing. Ongoing research leverages these antibodies to investigate malin's interaction partners and its role beyond glycogen regulation, including autophagy and cellular stress responses.