GJB2

GJB2 is a gene that provides instructions for making a protein called connexin 26. This protein is a member of the connexin protein family and a component of gap junctions.

Function

Connexin 26 is a protein that in humans is encoded by the GJB2 gene. Gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels. Proteins, called connexins, purified from fractions of enriched gap junctions from different tissues differ. The connexins are designated by their molecular mass. Another system of nomenclature divides gap junction proteins into 2 categories, alpha and beta, according to sequence similarities at the nucleotide and amino acid levels. For example, CX43 is designated alpha-1 gap junction protein, whereas CX32 and CX26 are called beta-2 and beta-3 gap junction proteins, respectively. This nomenclature emphasizes that GJB2 and GJB6 are members of the same family of connexins.

Clinical significance

Mutations in the GJB2 gene are often associated with non-syndromic sensorineural sensorineural hearing loss and palmoplantar keratoderma, both inherited in an autosomal recessive manner.

See also

• Connexin
• Gap junction

External links

• NCBI Gene
• GHR Gene

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