GJB2/Connexin 26 Polyclonal

GJBs (gap-junction proteins or connexins) share a common topology of 4 transmembrane alpha-helical domains, two extracellular loops, a cytoplasmic loop, and cytoplasmic N- and C-termini. Many of the key functional differences arise from specific amino-acid substitutions in the most highly conserved domains, the transmembrane and extracellular regions. Defects in GJB2 are the cause of deafness autosomal recessive type 1A (DFNB1A) which is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Defects in GJB2 are a cause of Vohwinkel syndrome (VS) which is an autosomal dominant disease characterized by hyperkeratosis, constriction on finger and toes and congenital deafness.