STRC

STRC, also written strc in some texts, is the gene symbol for the human gene encoding stereocilin. Stereocilin is a large extracellular glycoprotein expressed in the cochlear hair cells that detect sound. The protein localizes to the hair bundle of stereocilia and contributes to the organization and cohesion of these structures, which are essential for mechanoelectrical transduction in hearing.

Clinical significance: Pathogenic variants in STRC are a recognized cause of autosomal recessive nonsyndromic sensorineural hearing loss. Affected individuals typically present with mild to moderate bilateral hearing loss from early childhood. Genetic testing for STRC is included in many panels for deafness; sequencing can be challenging because of the gene's genomic architecture and may require copy-number analysis to detect deletions or duplications affecting STRC.

Genetics and research: STRC is conserved across mammals, reflecting its role in hearing. Reports describe missense, nonsense, frameshift, and larger deletions that disrupt stereocilin function. Ongoing research investigates the protein's precise interactions within the hair bundle and explores potential therapeutic approaches for STRC-related deafness.

See also: Stereocilia, Hair cell, Sensorineural deafness, Genetic hearing loss.