Defects in GJB6 are the cause of ectodermal dysplasia type 2 (ED2); also known as Clouston syndrome. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ED2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent features. Hearing impairment has been detected in few cases of ED2. Defects in GJB6 are the cause of deafness autosomal recessive type 1B (DFNB1B) [MIM:612645]. DFNB1B is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Defects in GJB6 are the cause of deafness autosomal dominant type 3B (DFNA3B).
GJB6; gap junction protein, beta 6; Cx30; AA958971; D14Bwg0506e; gap junction beta-6 protein; connexin-30; gap junction membrane channel protein beta 6; gap junction protein, beta 6, 30kDa; DFNA3, ectodermal dysplasia 2, hidrotic (Clouston syndrome) , ED2, gap junction protein, beta 6 , gap junction protein, beta 6 (connexin 30); connexin 30; EDH; HED; gap junction protein, beta 6 (connexin 30); ectodermal dysplasia 2, hidrotic (Clouston syndrome); ED2; DFNA3; DFNA3B; DFNB1B; CX31; connexin 31; connexin-31