Gap junction beta-2 protein (Connexin 26) (CX26)

Gap junction beta-2 protein, widely known as Connexin 26 (CX26), is a critical component of gap junctions that facilitate the direct transfer of ions and small molecules between adjacent cells (UniProt P29033). Encoded by the GJB2 gene, it is highly expressed in the cochlea and the epidermis, where it maintains physiological homeostasis (NCBI Gene ID 2706). In the inner ear, CX26 is essential for recycling potassium ions back into the endolymph, a process required for the sensory hair cells to detect sound (PMID: 28814571). Mutations in the GJB2 gene are the leading cause of hereditary non-syndromic sensorineural hearing loss worldwide, making it a primary target for genetic therapies (PMID: 31433940). Beyond hearing, CX26 dysfunction is linked to several skin pathologies, including Vohwinkel syndrome and keratitis-ichthyosis-deafness (KID) syndrome (StatPearls: Connexin Mutations). Current pharmacological research focuses on developing specific modulators of CX26 hemichannels and gene-based approaches to restore functional protein expression in the cochlea (PMID: 30553851).

Other names

GJB2Connexin-26CX26DFNB1DFNA3Gap junction protein beta 2

Gap junction channel blockade, Hemichannel inhibition, Gene replacement therapy, and Gene editing