Gap junction protein epsilon-1 (GJE1)

Gap junction protein epsilon-1 (GJE1), also known as Connexin-23 (Cx23), is a member of the connexin family of transmembrane proteins that form gap junctions—specialized intercellular channels enabling direct communication between adjacent cells[1][3][4]. Unlike most connexins, GJE1 is predicted to act as a hemichannel mediating calcium-independent ATP release but does not form functional, cell-cell spanning gap junctions[1]. It is involved in processes such as cell-cell signaling, lens development, organ growth, and cell morphogenesis, and is typically expressed at the plasma membrane as part of connexin complexes[1][3]. Mutations in this gene have been associated with rare inherited defects such as autosomal recessive deafness and palmoplantar keratoderma with deafness[1]. While the broader connexin family is often studied as a target class, there is currently no known evidence that GJE1 specifically serves as a direct therapeutic target[1][3][5].

Other names

Gap junction epsilon-1 proteinConnexin-23Cx23CX23putative gap junction epsilon-1 protein