Article
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness.
The American journal of pathology - 1 Oct 2008
de Zwart-Storm Eugene A, van Geel Michel, van Neer Pierre A F A, Steijlen Peter M, Martin Patricia E, van Steensel Maurice A M
Abstract excerpt
Gap junctions, which consist of connexins, are intercellular channels that mediate rapid intercellular communication. In the skin, connexins are involved in the regulation of epidermal growth and differentiation. GJB2 encodes connexin26, which is an important skin-expressed gap junction protein. Mutations in GJB2 cause a wide variety of unique disorders, but despite extensive research, their mechanisms of action...
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