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