Protein Name | gap junction protein, beta 1 |
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Organism | Mus musculus |
Gene ID | 14618 |
Gene Symbol | Gjb1 |
UniProt | P28230 (CXB1_MOUSE), A0A654IEJ3 (A0A654IEJ3_MOUSE) |
Relationships |
Total Number of functionally related compound(s) :
67
Total Number of Articles : 66 |
Description |
gap junction protein, beta 1 |
Gene Summary |
This gene is a member of the gap junction protein (connexin) 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 ions and small molecules between cells. Mutations in a similar gene in human cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Oct 2014] |
synonyms |
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