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     The image is immunohistochemistry of paraffin-embedded Human lung cancer tissue using P12533(GJB1 Antibody) at dilution 1/30. (Original magnification: ×200)    

  
  

GJB1 antibodies are associated with the GJB1 gene, which encodes connexin 32 (Cx32), a gap junction protein critical for intercellular communication in myelinating Schwann cells. Mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease (CMTX1), a hereditary peripheral neuropathy characterized by progressive muscle weakness, sensory loss, and nerve conduction abnormalities. Cx32 forms gap junctions that facilitate ion and metabolite exchange across myelin layers, ensuring proper nerve function. In CMTX1. dysfunctional Cx32 disrupts this communication, leading to demyelination and axonal degeneration.

GJB1 antibodies are primarily research tools used to detect Cx32 expression in tissue studies or diagnostic assays. They help investigate CMTX1 pathogenesis, assess protein localization/mislocalization in nerve biopsies, or validate cellular models of the disease. While most CMTX1 cases arise from genetic mutations, rare autoimmune neuropathies involving anti-Cx32 antibodies have been reported, suggesting a potential secondary role of autoimmunity in neuropathy. However, GJB1 antibodies are not routinely used in clinical diagnostics, as CMTX1 is predominantly confirmed via genetic testing. Current research focuses on understanding how Cx32 dysfunction impacts Schwann cell-axon interactions and exploring therapeutic strategies, including gene therapy or small molecules to restore gap junction function.