Clarin-1 (CLRN1)

Clarin-1 is a tetraspan-like membrane protein encoded by the CLRN1 gene, which is essential for normal function and development of sensory hair cells in the inner ear and photoreceptor cells in the retina. Clarin-1 contains four predicted transmembrane domains and shares similarity with the tetraspanin family. It is critical for the organization of actin filaments, maintenance of hair cell mechanotransduction apparatus, and proper localization of synaptic machinery. Mutations in CLRN1 cause Usher syndrome type III (USH3A), a rare autosomal recessive disorder characterized by progressive hearing and vision loss. The protein’s precise molecular function is incompletely resolved, but studies indicate central roles in protein complex formation, intracellular signaling, and establishment of specialized membrane domains in sensory cells. While not a drug target or receptor in a conventional therapeutic sense, the gene is important in genetic diagnostics and research efforts related to inherited sensory loss syndromes.

Other names

Usher syndrome type 3 proteinUsher syndrome 3A proteinUSH3A_HUMANUSH3A