Gjb2 - gap junction protein, beta 2 Gene

Enables gap junction channel activity. Involved in cell-cell signaling and gap junction-mediated intercellular transport. Acts upstream of or within gap junction assembly. Located in gap junction. Is integral component of plasma membrane. Part of connexin complex. Is expressed in several structures, including alimentary system; ear; genitourinary system; meninges; and skin. Used to study autosomal dominant keratitis-ichthyosis-deafness syndrome and autosomal recessive nonsyndromic deafness 1A. Human ortholog(s) of this gene implicated in Bart-Pumphrey syndrome; Vohwinkel syndrome; autosomal dominant keratitis-ichthyosis-deafness syndrome; nonsyndromic deafness (multiple); and palmoplantar keratoderma-deafness syndrome. Orthologous to human GJB2 (Gap Junction Protein beta 2). [provided by Alliance of Genome Resources, Apr 2022]