Connexins and Cell Signaling in Development and Disease

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(Note: the Connexin 32 gene is associated with CMT Type X)

Abstract from Annu Rev Cell Dev Biol. 2004 Jul 2

Connexins and Cell Signaling in Development and Disease.

Wei CJ, Xu X, Lo CW.

Laboratory of Developmental Biology, National Heart, Lung, and Blood

Institute, National Institutes of Health, Bethesda, MD 20892, Laboratory

of Developmental Biology, National Heart, Lung, and Blood Institute,

National Institutes of Health, Bethesda, MD 20892 Laboratory of

Developmental Biology, National Heart, Lung, and Blood Institute,

National Institutes of Health, Bethesda, MD 20892

Gap junctions contain hydrophilic membrane channels that allow direct

communication between neighboring cells through the diffusion of ion,

metabolites, and small cell signaling molecules. They are comprised of a

hexameric array of polypeptides encoded by the connexin multi-gene

family. Cell-cell communication mediated by connexins is crucial to

various cellular functions, including the regulation of cell growth,

differentiation, and development. Mutations in connexin genes have been

linked to a variety of human diseases, including cardiovascular

anomalies, peripheral neuropathy, deafness, skin disorders, and

cataracts. In addition to their coupling function, recent studies

suggest that connexin proteins may also mediate signaling. This could

involve interactions with other protein partners that may play a role

not only in connexin assembly, trafficking, gating and turnover, but

also in the coordinate regulation of cell-cell communication with cell

adhesion and cell motility. The integration of these cell functions is

likely to be important in the role of gap junctions in development and

disease. Expected online publication date for the Annual Review of Cell

and Developmental Biology Volume 20 is October 6, 2004. Please see

http://www.annualreviews.org/catalog/pub_dates.asp for revised

estimates.