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GJB2

—Gap Junction Protein Beta 2

Chromosome: 13

Location: 13:20187463-20192980

OMIM: 121011

Ensembl: ENSG00000165474

Official·OMIM:121011 Official·ENSG00000165474

Encodes Connexin 26 protein. The most common single-gene cause of hereditary deafness.

Treatment Roadmap — GJB2

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

Hereditary Hearing Loss (DFNB1)

Autosomal RecessivePrevalence: ~18Motologic

Official·OMIM:220290 Official·ORPHA90635

Summary

Clinical Trial

Approved Therapy

Registered Variant