Protein Name | gap junction protein beta 3 |
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Organism | Homo sapiens |
Gene ID | 2707 |
Gene Symbol | GJB3 |
UniProt | O75712 (CXB3_HUMAN), A0A654ICK0 (A0A654ICK0_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
19
Total Number of Articles : 16 |
Description |
gap junction protein beta 3 |
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, Jul 2008] |
synonyms |
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Properties | |