Gap junction protein beta 2 mRNA (GJB2 mRNA)

Gap junction protein beta 2 (GJB2) mRNA encodes Connexin 26 (Cx26), a vital protein that forms gap junction channels in the inner ear and skin. These channels facilitate the intercellular transport of ions, particularly potassium, and small signaling molecules, which is essential for maintaining the endocochlear potential required for sound transduction in the cochlea. Mutations in the GJB2 gene are the leading cause of congenital non-syndromic hearing loss (DFNB1) and are also associated with several syndromic skin conditions such as Vohwinkel syndrome and KID syndrome. Therapeutic strategies targeting GJB2 mRNA include AAV-mediated gene replacement to restore protein function in recessive cases, as well as RNA interference and antisense oligonucleotides to suppress dominant-negative transcripts. Emerging gene-editing technologies like Prime Editing are also being explored to correct specific mutations at the mRNA or genomic level. Clinical development is currently focused on restoring hearing in pediatric populations through localized delivery to the cochlea.

Other names

Connexin 26 mRNACx26 mRNADFNB1 mRNANSRD1 mRNAGap junction protein beta 2 transcript

Therapeutic strategies include gene replacement therapy to restore functional GJB2 expression in recessive cases, allele-specific suppression using RNA interference (RNAi) or antisense oligonucleotides (ASOs) to silence dominant-negative alleles, and gene editing (e.g., Prime Editing) to correct pathogenic mutations at the mRNA or genomic level.