Gap junctions in inherited human disorders of the central nervous system.

  title={Gap junctions in inherited human disorders of the central nervous system.},
  author={Charles K Abrams and Steven S. Scherer},
  journal={Biochimica et biophysica acta},
  volume={1818 8},
CNS glia and neurons express connexins, the proteins that form gap junctions in vertebrates. We review the connexins expressed by oligodendrocytes and astrocytes, and discuss their proposed physiologic roles. Of the 21 members of the human connexin family, mutations in three are associated with significant central nervous system manifestations. For each, we review the phenotype and discuss possible mechanisms of disease. Mutations in GJB1, the gene for connexin 32 (Cx32) cause the second most… CONTINUE READING
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