STRC gene
The STRC gene provides instructions for making the protein stereocilin, which is essential for the function of hair cells in the inner ear.
Normal Function
The STRC gene provides instructions for making a protein called stereocilin. This protein is found in the inner ear and is involved in hearing. Stereocilin is associated with hairlike structures called stereocilia, which project from specialized cells called hair cells in the inner ear. Stereocilin links the tips of neighboring stereocilia to one another. Stereocilia must be physically connected to carry out certain auditory functions, such as making quiet sounds louder and detecting sound frequency.
Health Conditions Related to Genetic Changes
Nonsyndromic hearing loss
Pathogenic variants in the STRC gene have been found to cause nonsyndromic hearing loss, which is a partial or total loss of hearing that is not associated with other signs and symptoms. Specifically, these variants cause a form of hearing loss called DFNB16. This condition is inherited in an autosomal recessive pattern. The loss of functional stereocilin likely prevents stereocilia from connecting to one another, impairing auditory functions.
Deafness-infertility syndrome
Deafness-infertility syndrome is caused by the deletion of genetic material on the long (q) arm of chromosome 15. This region contains multiple genes, including the STRC gene and the CATSPER2 gene. The lack of stereocilin (due to the loss of STRC) impairs auditory functions, while the loss of CATSPER2 impairs the movement of sperm, leading to infertility.
Other Names for This Gene
- DFNB16
Genomic Location
The STRC gene is found on chromosome 15.
