Aliases for GJC2 Gene
External Ids for GJC2 Gene
Previous HGNC Symbols for GJC2 Gene
Previous GeneCards Identifiers for GJC2 Gene
This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]
GeneCards Summary for GJC2 Gene
GJC2 (Gap Junction Protein, Gamma 2, 47kDa) is a Protein Coding gene. Diseases associated with GJC2 include spastic paraplegia 44 and leukodystrophy, hypomyelinating, 2. Among its related pathways are Vesicle-mediated transport and Myometrial Relaxation and Contraction Pathways. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJB3.
UniProtKB/Swiss-Prot for GJC2 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. May play a role in myelination in central and peripheral nervous systems.
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).