GJB2Cx26

GJB2Cx26 refers to a specific variant or mutation in the GJB2 gene. The GJB2 gene, also known as connexin 26, provides instructions for making a protein called connexin 26. This protein is a component of gap junctions, which are channels that allow small molecules and electrical signals to pass directly from one cell to another. These gap junctions are particularly important in the inner ear, where they play a crucial role in maintaining the proper electrochemical environment necessary for hearing.

Mutations in the GJB2 gene are a common cause of nonsyndromic hearing loss, meaning hearing loss that occurs without other associated symptoms. The Cx26 variant is one of the most frequently identified mutations associated with this condition. Different mutations in GJB2 can lead to varying degrees and patterns of hearing loss, from mild to profound, and can affect one or both ears. The GJB2Cx26 mutation is often associated with autosomal recessive inheritance, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. However, other inheritance patterns can also occur depending on the specific mutation and family history. Genetic testing is available to identify GJB2 mutations, including the Cx26 variant, which can be important for diagnosis, genetic counseling, and family planning. Research continues to explore the precise mechanisms by which GJB2 mutations lead to hearing impairment and potential therapeutic strategies.