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GJB4 - gap junction protein beta 4
- Synonym(s) : connexin 30.3, CX30.3
- Previous symbols and names : Gap junction protein, beta 4, gap junction protein, beta 4 (connexin 30.3), gap junction protein, beta 4, 30.3kDa
- Type : gene with protein product
- Chromosomal location : 1p34.3
- OMIM: 605425
- HGNC: 4286
- UniProtKB: Q9NTQ9
- Genatlas: GJB4
- Ensembl: ENSG00000189433
- IUPHAR-DB: -
- Reactome: Q9NTQ9
- LOVD: GJB4
Diseases list
- Disease-causing germline mutation(s) in Erythrokeratodermia variabilis
ORPHA:317 
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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