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GJB1

Gene

gap junction protein beta 1

HGNCHGNC:4283EnsemblENSG00000169562NCBI Gene2705
Locus: gene with protein productLocation: Xq13.1

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asCMTX1 · CMTX · CX32
View full nomenclature history (9)
Previous symbolsCMTX1, CMTX
Alias symbolsCX32
Previous namesgap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked), gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked), gap junction protein, beta 1, 32kDa (connexin 32), gap junction protein, beta 1, 32kDa
Alias namesCharcot-Marie-Tooth neuropathy, X-linked, connexin 32

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Charcot-Marie-Tooth Disease
Genetic Diseases, Inborn

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Gap junction proteins

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.