connexin 26 (O-24) Antibody: sc-130729

connexin 26 Background Information
The connexin family of proteins form hexameric complexes called “connexons” that facilitate movement of low molecular weight proteins between cells via gap junctions. Connexin proteins share a common topology of 4 transmembrane alpha-helical domains, two extracellular loops, a cytoplasmic loop, and cytoplasmic N- and C-termini. Each of the approximately 20 connexin isoforms produces channels with distinct permeabilities and electrical and chemical sensitivities; therefore, one connexin usually cannot fully substitute for another. Consequently, a wide variety of malignant phenotypes associate with decreased connexin expression and gap junction communication, dependent on the particular connexin that is effected. Approximately half the cases of autosomal recessive non-syndromic hearing loss and a significant proportion of sporadic hearing loss can be linked to mutations in the gene encoding connexin 26, while mutations in the gene encoding connexin 32 are the cause of Charcot-Marie-Tooth disease. Defects in the gene encoding connexin 30 are the cause of ectodermal dysplasia type 2 (ED2) and non-syndromatic sensorineural deafness autosomal dominant type 3 (DFNA3), the former of which is characterized by abnormal development of ectodermal structures (such as skin and nails).