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.
GJB1; gap junction protein, beta 1, 32kDa; CMTX, CMTX1, gap junction protein, beta 1, 32kD (connexin 32, Charcot Marie Tooth neuropathy, X linked) , gap junction protein, beta 1, 32kDa (connexin 32) , gap junction protein, beta 1, 32kDa (connexin 32, Charcot Marie Tooth neuropathy, X linked); gap junction beta-1 protein; Charcot Marie Tooth neuropathy; X linked; connexin 32; CX32; Charcot Marie Tooth neuropathy X linked; CMTX 1; CMTX; CMTX1; Connexin-32; Connexin32; CX 32; CXB1_HUMAN; GAP junction 28 kDa liver protein; Gap junction beta 1 protein; Gap junction protein beta 1 32kD; Gap junction protein beta 1; Gap junction protein beta-1 32kD; GJB 1; OTTHUMP00000023502; OTTHUMP00000023503; OTTHUMP00000023504