Connexin-43 Antibody

Gap junction alpha-1 protein (connexin-43) is a transmembrane channel that, together with other connexins, forms a gap junction. Gap junctions allow low MW materials to flow from one cell to a neighboring cell. Defects in connexin-43 are the cause of autosomal dominant oculodentodigital dysplasia (ODDD), also known as oculodentoosseous dysplasia. ODDD is a highly penetrant syndrome presenting with craniofacial (ocular, nasal, dental) and limb dysmorphisms, spastic paraplegia, and neurodegeneration.