Connexins and Cell Signaling in Development and Disease

[Guest guest]

Abstract from Annu Rev Cell Dev Biol. 2004 Nov;20:811-838.

(mentions peripheral neuropathy)

CONNEXINS AND CELL SIGNALING IN DEVELOPMENT AND DISEASE1.

Wei CJ, Xu X, Lo CW.

Laboratory of Developmental Biology, National Heart, Lung and Blood

Institute, National Institutes of Health, Department of Health and Human

Services , Bethesda, land 20892

Gap junctions contain hydrophilic membrane channels that allow direct

communication between neighboring cells through the diffusion of ions,

metabolites, and small cell signaling molecules. They are made up 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.