Get B2-connexin (connexin-26) Can Bformb Heteromeric Hemi- Channels - Jbc

Connexin problems are known to be involved in various diseases. Among them, inherited diseases caused by connexin mutations are found in multiple organs and include hereditary deafness, congenital cataract, congenital heart diseases, hereditary skin diseases, and X-linked Charcot–Marie–Tooth disease (CMT1X) [3].

Hear this out loud PauseConnexin 26 (Cx26) encoded by the GJB2 gene forms GJs of the inner ear, and mutations of GJB2 cause congenital hearing loss that can be syndromic or non-syndromic.

Connexin 26 is actually a protein found in the gap junction beta 2 (GJB2) gene. This protein is needed to allow cells to communicate with each other. If there is not enough Connexin 26 protein, the potassium levels in the inner ear become too high and damage hearing.

Connexin 26 (Cx26, GJB2) mutations are a common genetic cause for non-syndromic hearing loss and are responsible for ~50% of non-syndromic hearing loss in children (Rabionet et al., 2000).

Hear this out loud PauseConnexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between adjoining cells.

Mutations in the connexin 26 gene are associated with several distinct skin disorders, most of which are characterized by markedly thickened epidermis, often on the palms and soles, in association with sensorineural deafness (168,169).

Cx31 mutations cause nonsyndromic hearing loss, or skin disease. Like many of the other B-group connexins described thus far, mutations in the human GJB3 gene encoding Cx31 also contribute to non-syndromic deafness and skin disease.

Connexins constitute a large family of trans-membrane proteins that allow intercellular communication and the transfer of ions and small signaling molecules between cells.

At least nine GJB2 gene mutations have been identified in people with palmoplantar keratoderma with deafness, a condition characterized by hearing loss and unusually thick skin on the palms of the hands and soles of the feet. The GJB2 gene mutations that cause this condition change single amino acids in connexin 26.