GJB2 antibodies target the gap junction beta-2 protein, encoded by the GJB2 gene, which plays a critical role in forming connexin channels. These channels facilitate intercellular communication by allowing the exchange of ions, metabolites, and signaling molecules. GJB2 is particularly vital in the inner ear, where it maintains potassium homeostasis necessary for auditory function, and in the skin, where it supports epidermal integrity. Mutations in GJB2 are the most common genetic cause of nonsyndromic hearing loss (NSHL), accounting for up to 50% of cases globally. They are also linked to skin disorders like keratoderma.
GJB2 antibodies are essential tools in research and diagnostics. They help detect protein expression in tissues, study subcellular localization, and assess functional consequences of pathogenic mutations (e.g., impaired channel assembly). In clinical settings, these antibodies may aid in confirming GJB2-related pathologies when genetic testing is inconclusive or to correlate genotype-phenotype relationships. Additionally, they contribute to exploring therapeutic strategies, such as gene therapy or pharmacologic interventions to restore channel function. However, their utility in routine diagnostics remains limited compared to DNA sequencing, which is the gold standard for identifying GJB2 mutations. Research continues to elucidate the structural and regulatory mechanisms of GJB2. aiming to develop targeted treatments for hearing loss and dermatologic conditions.