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GJB3

Official Full Name
gap junction protein beta 3
Organism
Homo sapiens
GeneID
2707
Background
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, Jul 2008]
Synonyms
EKV; CX31; DFNA2; EKVP1; DFNA2B;

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