TMIE

The TMIE gene provides instructions for making a protein called the transmembrane inner ear protein. Although the function of this protein is unknown, it appears to be important for normal hearing. Some studies have indicated that the protein may play a role in the development of hairlike projections called stereocilia in the inner ear. Stereocilia bend in response to sound waves, and this bending motion triggers a series of reactions that convert sound to nerve impulses. The transmembrane inner ear protein also may be necessary for the normal function of the auditory nerve, which transmits nerve impulses from the inner ear to the brain to allow the perception of sound.

nonsyndromic deafness - caused by mutations in the TMIE gene

At least five mutations in the TMIE gene have been identified in families with a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNB6. Several of these genetic changes alter a single DNA building block (nucleotide) in the TMIE gene. Other mutations insert or delete a small amount of DNA in the gene. Researchers have not determined how these mutations lead to hearing loss.