PhenomeGene — Human Disease Gene Website SeriesTRPM3

Research collaboration

The Laboratory for Ion Channel Research (LICR) at the University of Leuven has established a pipeline to characterize TRPM3variants from patients, using heterologous expression of the mutant channel in cell lines followed by detailed biophysical and pharmacological analysis. This characterization is essential to determine pathogenicity of newly identified variants, and to guide appropriate pharmacological treatment. Professionals that have patients with variants of unknown significance in the TRPM3gene are welcome to contact Joris.Vriens@kuleuven.be to initiate characterisation.