Gjb6 - gap junction protein, beta 6

Predicted to enable cytoskeletal protein binding activity and gap junction channel activity involved in cell communication by electrical coupling. Acts upstream of or within ear morphogenesis and sensory perception of sound. Located in gap junction. Is expressed in bladder; spiral ligament; urinary system; and urothelium of bladder. Used to study Clouston syndrome and autosomal recessive nonsyndromic deafness 1A. Human ortholog(s) of this gene implicated in Clouston syndrome; autosomal dominant nonsyndromic deafness 3B; autosomal recessive nonsyndromic deafness 1A; autosomal recessive nonsyndromic deafness 1B; and ectodermal dysplasia. Orthologous to human GJB6 (gap junction protein beta 6). [provided by Alliance of Genome Resources, Apr 2022]