Gene Symbol | GJB3 |
Entrez Gene ID | 2707 |
Full Name | gap junction protein beta 3 |
Synonyms | CX31,DFNA2,DFNA2B,EKV,EKVP1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Erythrokeratodermia variabilis et progressiva 1, 133200 (3); Deafness, autosomal dominant 2B, 612644 (3); Deafness, autosomal recessive (3); Deafness, autosomal dominant, with peripheral neuropathy (3); Deafness, digenic, GJB2/GJB3, 220290 (3) |