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gjb3

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Official Full Name
gap junction protein, beta 3, 31kDa
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.
Synonyms
GJB3; gap junction protein, beta 3, 31kDa; DFNA2, EKV, erythrokeratodermia variabilis , gap junction protein, beta 3, 31kD (connexin 31) , gap junction protein, beta 3, 31kDa (connexin 31); gap junction beta-3 protein; connexin 31; CX31; connexin-31; E; EKV; DFNA2; DFNA2B; FLJ22486; MGC102938

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