PubMed · 9843196
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K P Steel. 1998. One connexin, two diseases.. https://doi.org/10.1038/3781
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Gap junctions are highly conserved structures that provide cells with a direct pathway for sharing ions, nutrients and other intracellular messengers, thus participating to the homeostasis of various tissues. Research on transgenic mice has revealed a major involvement of gap junctions proteins (connexins) in several cellular functions. At the same time, an increasing number of mutations of connexin genes has been linked to several hereditary diseases, including peripheral neuropathies, skin diseases, genetic deafness, cataracts and some forms of epilepsy. This review summarizes the state of knowledge about the implication of connexins in human pathologies.