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GJB3

—Gap Junction Protein Beta 3

Chromosome: 1

Location: 1:34781175-34786369

OMIM: 603324

Ensembl: ENSG00000188910

Official·OMIM:603324 Official·ENSG00000188910

Encodes Connexin 31 protein. Mutations cause erythrokeratodermia variabilis.

Treatment Roadmap — GJB3

Preclinical

Phase 1

Phase 2

Phase 3

Approved

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

Erythrokeratodermia Variabilis

Autosomal DominantPrevalence: 1/300000dermatologic

Official·OMIM:133200 Official·ORPHA317

Summary

Clinical Trial

Approved Therapy

Registered Variant