GJB3

GJB3 (Gap Junction Protein Beta 3), also known as Connexin 31 (Cx31), is a protein that in humans is encoded by the GJB3 gene. It is a member of the connexin family of proteins, which form gap junctions and allow ions and small molecules to pass between adjacent cells.

Function

GJB3 is a gap junction protein. Gap junctions are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The GJB3 protein is a member of the connexin family which are highly similar proteins that are major components of gap junctions.

Clinical significance

Mutations in the GJB3 gene have been associated with erythrokeratodermia variabilis, a skin disorder, and deafness, a hearing disorder. Some mutations in this gene can lead to non-syndromic hearing loss, while others can cause skin abnormalities in addition to hearing loss.

Genetics

The GJB3 gene is located on the short (p) arm of chromosome 1 at position 34, from base pair 19,370,616 to base pair 19,374,927.

See also

• Connexin
• Gap junction
• Erythrokeratodermia variabilis
• Deafness

External links

• GJB3 at the National Center for Biotechnology Information

This article is a stub related to genetics. You can help WikiMD by expanding it!