LHFPL5

The LHFPL5 gene (also called TMHS) provides instructions for making a protein called LHFP-like protein 5. The specific role of this protein is unknown. Researchers suggest that LHFP-like protein 5 is important for the normal function of the inner ear and the hearing process. Hearing requires the conversion of sound waves to nerve impulses that are transmitted via the auditory nerve to the brain. LHFP-like protein 5 may play a role in this conversion process. Studies indicate that this protein may help in the formation of stereocilia, the hairlike structures that project from specialized cells called hair cells. Stereocilia line the inner ear and bend in response to sound waves. This bending motion is critical for converting sound waves to nerve impulses.

nonsyndromic deafness - caused by mutations in the LHFPL5 gene

Researchers have identified a few mutations in the LHFPL5 gene that cause a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNB67. Some of these mutations introduce a premature stop signal in the instructions for making LHFP-like protein 5. As a result, scientists believe that no protein is produced, or an abnormally small and nonfunctional protein is made. Other mutations replace one of the protein building blocks (amino acids) used to make LHFP-like protein 5 with an incorrect amino acid. It is unclear how LHFPL5 mutations cause hearing loss.