GJB2 Gene

The GJB2 gene provides instructions for making a protein called connexin 26, which is crucial for the proper functioning of inner ear cells involved in hearing. Mutations in this gene can disrupt the formation of gap junctions—connections that allow cells to communicate and maintain balance in the fluid of the inner ear. These disruptions can lead to hearing loss, which is often genetic and can be present at birth or develop later in life. GJB2 is one of the most common genes associated with inherited hearing impairment.