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.
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Protein Aliases: connexin 29; Connexin-30.2; Connexin-31.3; Cx30.2; Cx31.3; Gap junction epsilon-1 protein; Gap junction gamma-3 protein; gap junction protein, gamma 3, 30.2kDa
Gene Aliases: CX29; CX30.2; CX31.3; GJC3; GJE1
UniProt ID: (Human) Q8NFK1
Entrez Gene ID: (Human) 349149