Grant: Project Grant

Ion channel proteins are large molecules that generate rapid electrical signals in our bodies. Defects of ion channel proteins in the nervous system leads to neurological diseases including seizure disorders, movement disorders, and developmental delay. Throughout our bodies, many ion channel proteins interact with other 'auxiliary' proteins that regulate their activity. The broad theme of our research is to identify new auxiliary subunits and the functional outcomes of their assembly with ion channels. In this project, our specific goal is to investigate a recently identified protein that is mutated in certain families with a genetically inherited form of autism. We have demonstrated that this protein acts as an auxiliary regulator of important ion channel proteins found in the brain and immune system, and our research will characterize this previously unrecognized interaction. We have also identified several other proteins with previously unrecognized effects on ion channels, and we will further investigate their role in electrical signaling in the body. Overall, our research project will generate new knowledge into mechanisms of electrical signaling in the brain or other cell types and how disruption of this signaling can lead to neurodevelopmental diseases.