Symbol: Name: ID: |
GJC2 gap junction protein, gamma 2, 47kDa GFS:6520 |
Gene name: | GJC2 |
Chromosome: | 1q41-q42 |
Previous Symbols: | GJA12 |
Previous Names: | gap junction protein, alpha 12, 47kDa |
Aliases: | CX47, CX46.6, SPG44 |
Name Aliases: | connexin 47 |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2153060 | Rat Genome Database ID: | RGD:1562712 |
HGNC ID: | HGNC:17494 | RefSeq IDs: | NM_020435 |
Entrez Gene ID: | 57165 | Ensembl Gene ID: | ENSG00000198835 |
VEGA IDs: | OTTHUMG00000039771 | UniProt ID: | Q5T442 |
UCSC ID: | uc001hsk.2 | OMIM ID: | 608803 |
Pubmed: | PMID19056803 | ||
CCDS IDs: | CCDSCCDS1569.1 |
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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: 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.
Products for GJC2 gene
Catalog | Product Name | Application | Company |
GFS:E06520 | gap junction protein, gamma 2, 47kDa; ELISA kit | ELISA | n/a |
GFS:A06520 | gap junction protein, gamma 2, 47kDa; Anti | ANTIBODIES | n/a |
GFS:P06520 | gap junction protein, gamma 2, 47kDa; Protien | Protien | n/a |