Entrez gene ID | | 2707 |
Official gene symbol | | GJB3 |
Full name | | gap junction protein, beta 3, 31kDa |
Aliases | | ,CX31,DFNA2,DFNA2B,EKV,FLJ22486,MGC102938, |
Gene summary | | This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1p34 |
Gene position | | 35246790 - 35251967 Map Viewer |
Gene orientation | | plus |
Gene size | | 5178 bp |
Gene sequence |
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OMIM ID | | 603324 |
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