The gene gjb3 encodes a connexin gap junction protein. This membrane-bound channel-forming protein facilitates direct intercellular communication by allowing the passage of small molecules and ions bet...[+]

The gene gjb3 encodes a connexin gap junction protein. This membrane-bound channel-forming protein facilitates direct intercellular communication by allowing the passage of small molecules and ions between adjacent cells. It is expressed in various tissues including the skin epidermis, otic vesicle, brain, and spinal cord during embryonic development. The protein localizes to the plasma membrane where it assembles into gap junction plaques. [-]

             autosomal dominant nonsyndromic deafness
             autosomal recessive nonsyndromic deafness
             autosomal recessive nonsyndromic deafness 1A
             autosomal dominant nonsyndromic deafness 2A
             autosomal dominant nonsyndromic deafness 2B

          ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1
          DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
          DEAFNESS, AUTOSOMAL DOMINANT 2B; DFNA2B

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