Anti-Connexin-26 (GJB2) Antibody

Connexins (Cx) are integral membrane proteins consisting of four transmembrane domains, two extracellular loops, one intracellular loop and intracellular N- and C-termini. The 21 members belonging to this family form homomeric or heteromeric hexamers generally termed connexons or hemi-channels. In turn, these hemi-channels further assemble in a head-to-head manner, thus forming gap junction channels^1,2. Connexins are ubiquitously expressed and their activity is regulated at the expression level and by post-translational modifications¹.

Gap junctions are usually found in clusters and enable intercellular communication by allowing the passage of small molecules between cells³. They play important roles in different biological processes. These include differentiation, cell cycle synchronization, cellular development, neuronal activity and the immune response^2,4,5.

Due to their important roles, mutations in connexins are linked with a number of diseases such as neurodegenerative disorders, skin diseases and developmental abnormalities^2,5,6. Mutations in the gene encoding for Connexin-26 protein are associated with deafness⁷.