| Modification Notes |
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 four transmembrane a-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. Connexin 31, also known as GJB3 (gap junction b-3 protein), CX31, DFNA2 or EKV, is expressed in skin, testis, placenta, cochlea and developing hindbrain and, in mice, it is also found in peripheral auditory nerves. Mutations in the gene encoding connexin 31 can result in non-syndromic sensorineural deafness autosomal dominant type 2 (DFNA2) and/or erythrokeratodermia variabilis (EVK), a condition characterized by localized or generalized hyperkeratosis and random, transient erythematous patches. |