Gap junction functions defined by genetic diseases and gene knockouts.

Intercellular channels present in gap junctions allow cells to share small molecules and thus coordinate a wide range of behaviors. In vertebrates, a large family of genes known as connexins (Cx) encodes these gap junctional channels, and mutations in human connexins underlie a variety of diseases, including deafness, skin diseases (keratodermas), and lens cataracts. We are interested in how different members of the connexin family fulfill unique functions in tissue homeostasis, and in how intercellular channel activity is regulated by intracellular signal transduction cascades. We study the consequences of disease causing mutations on the functional behavior of channels using in vitro assays of channel permeation and gating followed by the generation of genetically engineered mice where genes have been deleted or mutated to create models of human disease.