connexin 26/30/32 (FL-226) Antibody: sc-28659

connexin 26/30/32 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).