Gjb6 - gap junction protein, beta 6 Gene

Predicted to enable cytoskeletal protein binding activity and gap junction channel activity involved in cell communication by electrical coupling. Involved in several processes, including cellular response to glucose stimulus; response to electrical stimulus; and response to lipopolysaccharide. Located in apical plasma membrane; cytosol; and gap junction. Biomarker of borna disease; status epilepticus; transient cerebral ischemia; ureteral obstruction; and visual epilepsy. 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]