GJB1

gap junction protein beta 1

3 disorders 2 untyped 1 causative Xq13.1 gene with protein product

HGNC:4283 Monarch NCBI Gene 2705 ENSG00000169562 UniProt P08034 OMIM 304040

Previous symbols: CMTX1, CMTX. Aliases: CX32.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Charcot-Marie-Tooth Disease Type X	causative	mechanism: Connexin-32 Reflexive Gap Junction Loss in Schwann Cells; Oligodendrocyte Connexin-32 Loss and Transient CNS Dysfunction subtype: CMTX1
Charcot-Marie-Tooth Disease	untyped Causal
Charcot-Marie-Tooth Disease Type 1	untyped Causal	mechanism: Connexin-32 Gap Junction Failure in CMTX1 subtype: CMTX1 scoped to subtype: CMTX1

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Charcot-Marie-Tooth disease X-linked dominant 1 MONDO:0010549	XL	Definitive 2020-01-14	Charcot-Marie-Tooth Disease Type X causative

Mechanism modules · computed from kb/

schwann_cell_myelin_maintenance via Charcot-Marie-Tooth Disease Type 1, Charcot-Marie-Tooth Disease Type X

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.