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GJB1

—Gap Junction Protein Beta 1

Chromosome: X

Location: X:71212811-71225519

OMIM: 304040

Ensembl: ENSG00000169562

Official·OMIM:304040 Official·ENSG00000169562

Encodes Connexin 32 protein. Mutations cause CMT type X1.

Treatment Roadmap — GJB1

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

Charcot-Marie-Tooth Disease Type X1

X-Linked DominantPrevalence: 1/20000neurological

Official·OMIM:302800 Official·ORPHA101075

Summary

Clinical Trial

Approved Therapy

Registered Variant