The gjb2 gene encodes a gap junction channel protein, specifically connexin 26, which forms intercellular channels permitting the direct exchange of ions and small molecules between adjacent cells. Thi...[+]

The gjb2 gene encodes a gap junction channel protein, specifically connexin 26, which forms intercellular channels permitting the direct exchange of ions and small molecules between adjacent cells. This protein is localized to the plasma membrane. It functions in the otic vesicle during inner ear development, the skin, the pronephros, and the brain. [-]

             autosomal recessive nonsyndromic deafness
             X-linked nonsyndromic deafness
             Bart-Pumphrey syndrome
             autosomal dominant keratitis-ichthyosis-deafness syndrome
             autosomal recessive nonsyndromic deafness 1A
             autosomal dominant nonsyndromic deafness 3A
             sensorineural hearing loss
             Vohwinkel syndrome
             palmoplantar keratoderma-deafness syndrome
             X-linked deafness 2

          DEAFNESS, AUTOSOMAL DOMINANT 3A; DFNA3A
          BART-PUMPHREY SYNDROME; BAPS
          DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
          ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
          KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT; KIDAD
          KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
          VOHWINKEL SYNDROME; VOWNKL

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD