STRC

The STRC gene provides instructions for making a protein called stereocilin. This protein is found in the inner ear and may be involved in hearing. Hearing requires the conversion of sound waves to nerve impulses that are transmitted via the auditory nerve to the brain. Stereocilin may play a role in this conversion process. Studies indicate that stereocilin is associated with hair-like structures called stereocilia. Stereocilia project from specialized cells called hair cells and bend in response to sound waves. This bending motion triggers a series of reactions that generate a nerve impulse. Although the exact function of the stereocilin protein is unknown, it appears to be important for normal hearing.

nonsyndromic deafness - caused by mutations in the STRC gene

Researchers have identified a few STRC gene mutations that cause a form of nonsyndromic deafness (hearing loss without related symptoms affecting other parts of the body) called DFNB16. These mutations add a small amount of DNA to the STRC gene or delete DNA from the gene. These changes probably result in an abnormal version of the stereocilin protein. The presence of the abnormal protein could impair the function of the stereocilia, leading to hearing loss.

sensorineural deafness and male infertility - associated with the STRC gene

The symptoms of sensorineural deafness and male infertility are caused by a deletion of genetic material on the long (q) arm of chromosome 15. The chromosomal region that is typically deleted contains multiple genes, including the STRC gene. People with this condition have the deletion in both copies of chromosome 15 in each cell. As a result of the deletion, affected individuals are missing both copies of the STRC gene, and no stereocilin protein is produced. A lack of stereocilin likely interferes with the normal function of stereocilia and impairs how these structures respond to sound waves, resulting in hearing loss.