GJB6 : gap junction protein beta 6

Description

The GJB6 (gap junction protein beta 6) is a protein-coding gene located on chromosome 13.

The GJB6 gene provides instructions for creating a protein called gap junction beta 6, more commonly known as connexin 30. Connexin 30 is a member of the connexin protein family, which forms channels called gap junctions. These junctions allow the transfer of nutrients, ions, and signaling molecules between adjacent cells. The size of the gap junction and the types of particles passing through are determined by the specific connexin proteins. Gap junctions made with connexin 30 facilitate the transport of potassium ions and certain small molecules. Connexin 30 is found in various tissues, including the brain, inner ear, skin, hair follicles, and nail beds. Its presence in the inner ear makes it a focus of research regarding its role in hearing. Hearing involves converting sound waves into electrical nerve impulses, a process requiring the maintenance of a suitable potassium ion level in the inner ear. Some studies suggest that gap junctions formed with connexin 30 contribute to maintaining this potassium ion balance.

Gap junctions are formed by clusters of closely packed pairs of transmembrane channels, known as connexons. These connexons allow for the diffusion of small molecules between neighboring cells.

GJB6 is also known as CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2.

Associated Diseases

• Deafness, autosomal recessive 1B
• Clouston syndrome
• Hidrotic ectodermal dysplasia
• Deafness, X-linked 2
• Deafness, autosomal recessive 1A
• KID syndrome
• Deafness, autosomal dominant 3B
• Nonsyndromic hearing loss