Aliases for GJB1 Gene
External Ids for GJB1 Gene
Previous HGNC Symbols for GJB1 Gene
Previous GeneCards Identifiers for GJB1 Gene
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]
GeneCards Summary for GJB1 Gene
GJB1 (Gap Junction Protein Beta 1) is a Protein Coding gene. Diseases associated with GJB1 include Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 and Charcot-Marie-Tooth Disease. Among its related pathways are G-Beta Gamma Signaling and Oligomerization of connexins into connexons. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is GJB6.
UniProtKB/Swiss-Prot Summary for GJB1 Gene
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
Gap channels (gap junctions) are specialized cell-cell contacts that provide direct intracellular communication. They allow passive diffusion of molecules up to 1 kDa, including nutrients, metabolites (glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP).