Gap junction protein beta 6 (GJB6 (Connexin 30, often abbreviated as Cx30))

Gap junction protein beta 6, most commonly referred to as connexin 30 (Cx30), is a member of the connexin protein family that assembles into hexameric structures called connexons, which pair with connexons in neighboring cells to form gap junction channels. These channels enable the passive diffusion of ions (such as potassium) and small signaling molecules (<1 kDa) directly between the cytoplasm of adjacent cells, facilitating metabolic and electrical coordination. Connexin 30 is highly expressed in the inner ear (critical for hearing by recycling potassium ions), brain (in astrocytes, influencing synaptic activity and network dynamics), skin, hair follicles, and nail beds. Genetic defects in *GJB6* cause Clouston syndrome (hidrotic ectodermal dysplasia) and contribute to inherited deafness. *GJB6* is essential for epithelial and neuronal tissue homeostasis, and its disruption leads to multisystem disease involving hearing, skin, and nail abnormalities

Other names

Connexin 30 (Cx30)GJB6CX30EDH (Ectodermal dysplasia, hidrotic)HED (Hidrotic ectodermal dysplasia)DFNA3 (Deafness, nonsyndromic, autosomal dominant 3)ED2 (Ectodermal dysplasia 2)

Not directly applicable (no specific drugs); in principle, modulators of gap junctions could disrupt or potentiate cell-cell communication by altering channel opening, closure, or assembly