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GJB3 / CX31 / Connexin 31 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.
Gene Name: | gap junction protein, beta 3, 31kDa |
Family/Subfamily: | Ion Channel , Connexin |
Synonyms: | GJB3, Connexin 31, Connexin-31, CX31, DFNA2, Erythrokeratodermia variabilis, Gap junction beta-3 protein, DFNA2B, EKV, Gap junction protein beta 3 |
Target Sequences: | NM_024009 NP_076872.1 O75712 |
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