“Multiple functions of VPS13, from yeast spores to human disease’’

Yeast VPS13 is the founding member of a gene family that is present in all eukaryotic cells. In humans, there are four family members and mutations in three of these are associated with inherited diseases: The molecular function of this gene family and how its absence promotes the disease state remain unknown. Multiple cellular roles have been identified for the yeast VPS13. We are using the yeast system to define the molecular activity(s) of the Vps13 protein. Introduction into yeast VPS13 of mutations associated with the disease chorea acanthocytosis in humans is being used to determine which activity of the Vps13 protein is relevant to this disorder.