Connexins and cell signaling in development and disease.
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.
Laboratory of Developmental Biology, National Heart, Lung and Blood Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA. weic@nhlbi.nih.gov
Chih-Jen
CJ
Wei
Xin
X
Xu
Cecilia W
CW
Lo
D000818:Animals; D002319:Cardiovascular System / Q000254:growth & development; D002386:Cataract / Q000235:genetics / Q000378:metabolism; D002450:Cell Communication / Q000502:physiology*; D017630:Connexins / Q000235:genetics / Q000502:physiology*; D004194:Disease / Q000209:etiology*; D047108:Embryonic Development; D017629:Gap Junctions / Q000502:physiology; D006801:Humans; D009422:Nervous System Diseases / Q000235:genetics / Q000378:metabolism; D012871:Skin Diseases / Q000235:genetics / Q000378:metabolism
D017630:Connexins