GJB1, Official Symbol GJB1provided by HGNC Official Full Name gap junction protein beta 1provided by HGNC Primary source HGNC:HGNC:4283 See related Ensembl:ENSG00000169562 MIM:304040; AllianceGenome:HGNC:4283 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 CMTX; CX32; CMTX1 Summary This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008] Expression Biased expression in liver (RPKM 81.6), kidney (RPKM 24.7) and 10 other tissues See more Orthologs mouse all