GJB6
GJB6 also known as Gap Junction Beta-6 is a protein that in humans is encoded by the GJB6 gene. It is a member of the connexin family and a component of gap junctions.
Function[edit | edit source]
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 nomenclature system refers to connexin's genes coding the connexin proteins which have been named alpha (α) or beta (β), according to the sequence of their discovery. Therefore, the term of connexin 30 refers to the protein product of the GJB6 gene.
Clinical significance[edit | edit source]
Mutations in the GJB6 gene are linked to both nonsyndromic deafness and hidrotic ectodermal dysplasia.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- GJB6 at the US National Library of Medicine Medical Subject Headings (MeSH)
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Contributors: Prab R. Tumpati, MD
