Gap junction beta-6 protein (Connexin 30) (CX30)

Connexin 30, encoded by the GJB6 gene, is a member of the connexin family of transmembrane proteins that assemble to form gap junctions and hemichannels [3, 4]. These structures are essential for direct intercellular communication, allowing the passage of ions, small metabolites, and signaling molecules between adjacent cells [1, 15]. In the inner ear, Connexin 30 plays a critical role in potassium recycling, which is vital for the mechanotransduction process of hearing [3, 11]. Mutations in the GJB6 gene are a major cause of nonsyndromic hearing loss and Clouston syndrome, a skin disorder characterized by hair loss and nail dystrophy [3, 10]. In the central nervous system, Connexin 30 is primarily expressed in astrocytes, where it regulates synaptic strength and glutamate transport [2, 12]. It has also been implicated in cancer, specifically glioblastoma, where it may act as a tumor suppressor but also contribute to radiation resistance [7, 16]. Pharmacological modulation of Connexin 30 is being explored for neurological and psychiatric conditions, although achieving isoform specificity remains a significant therapeutic challenge [2, 5, 15].

Other names

GJB6Connexin-30Gap junction protein beta 6DFNA3DFNA3BDFNB1BECTD2ED2EDHHEDHED2

Gap junction blocker, Hemichannel inhibitor, Modulation of astroglial glutamate transport