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Summary Expression Expr. PhenotypesPheno. Gene Literature (110)Lit. (110) GO Terms (19)GO (19) Nucleotides (433)Nucl. (433) Proteins (53)Prot. (53) Interactants (259)Interact. (259) Wiki
XB-GENEPAGE-481037
???displayGene.symbol???:
 gjb1

???displayGene.name???: 
gap junction protein beta 1

???displayGene.synonyms???
cmtx , cmtx1 , connexin 30 , connexin-30 , connexin 32 , connexin32 [+] ( Nomenclature history )

???displayGene.geneFunction???
connexon channel component

AI Protein Function :
The gjb1 protein is a membrane‑bound gap junction channel component that forms intercellular channels permitting ion and small metabolite exchange; it localizes to the plasma membrane in gap‑junction p...[+]


InterPro :
Connexin, Connexin CCC, Connexin N, Connexin N sf, [+]

???displayGene.geneInteractants???
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Diseases: 


Disease Ontology:
Charcot-Marie-Tooth disease X-linked dominant 1

MIM:
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1

External Links:
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???displayGene.expression???                  Development Stages                                               Embryonic Tissues                                                                Adult Tissues
More Information
Xenbase Expression Details In situ images Single cell data at SPRING In situ: RNA-Seq:


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