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Pflugers Arch. 2010 Jul;460(2):451-66. doi: 10.1007/s00424-010-0789-1. Epub 2010 Feb 7.

Gap junctions in inherited human disease.

Author information

1
Department of Neuroanatomy and Molecular Brain Research, Ruhr University Bochum, University Street 150, Bochum, 44801, Germany. georg.zoidl@rub.de

Abstract

Gap junctions (GJ) provide direct intercellular communication. The structures underlying these cell junctions are membrane-associated channels composed of six integral membrane connexin (Cx) proteins, which can form communicating channels connecting the cytoplasms of adjacent cells. This provides coupled cells with a direct pathway for sharing ions, nutrients, or small metabolites to establish electrical coupling or balancing metabolites in various tissues. Genetic approaches have uncovered a still growing number of mutations in Cxs related to human diseases including deafness, skin disease, peripheral and central neuropathies, cataracts, or cardiovascular dysfunctions. The discovery of a growing number of inherited human disorders provides an unequivocal demonstration that gap junctional communication is crucial for diverse physiological processes.

PMID:
20140684
DOI:
10.1007/s00424-010-0789-1
[Indexed for MEDLINE]

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