GJB4, Official Symbol GJB4provided by HGNC Official Full Name gap junction protein beta 4provided by HGNC Primary source HGNC:HGNC:4286 See related Ensembl:ENSG00000189433 MIM:605425; AllianceGenome:HGNC:4286 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; EKVP2; CX30.3 Summary This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009] Expression Biased expression in skin (RPKM 10.4), gall bladder (RPKM 1.6) and 2 other tissues See more Orthologs mouse all