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GJB1 - gap junction protein beta 1
- Synonym(s) : Charcot-Marie-Tooth neuropathy, X-linked, connexin 32, CX32
- Previous symbols and names : CMTX, CMTX1, gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked), gap junction protein, beta 1, 32kDa, gap junction protein, beta 1, 32kDa (connexin 32), gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)
- Type : gene with protein product
- Chromosomal location : Xq13.1
- OMIM: 304040
- HGNC: 4283
- UniProtKB: P08034
- Genatlas: GJB1
- GenCC: GJB1
- Ensembl: ENSG00000169562
- IUPHAR-DB: 723
- Reactome: P08034
- LOVD: GJB1
Diseases list
- Disease-causing germline mutation(s) in X-linked Charcot-Marie-Tooth disease type 1
ORPHA:101075 
- Disease-causing germline mutation(s) in X-linked progressive cerebellar ataxia
ORPHA:1175
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
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