GJB3, Official Symbol GJB3provided by HGNC Official Full Name gap junction protein beta 3provided by HGNC Primary source HGNC:HGNC:4285 See related Ensembl:ENSG00000188910 MIM:603324; AllianceGenome:HGNC:4285 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EKV; CX31; DFNA2; EKVP1; DFNA2B Summary This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] Expression Biased expression in skin (RPKM 23.0), esophagus (RPKM 12.6) and 4 other tissues See more Orthologs mouse all