Article
Amino acid substitution equivalent to human chorea-acanthocytosis I2771R in yeast Vps13 protein affects its binding to phosphatidylinositol 3-phosphate.
Human molecular genetics - 15 Apr 2017
Rzepnikowska Weronika, Flis Krzysztof, Kaminska Joanna, Grynberg Marcin, Urbanek Agnieszka, Ayscough Kathryn R, Zoladek Teresa
Abstract excerpt
The rare human disorder chorea-acanthocytosis (ChAc) is caused by mutations in hVPS13A gene. The hVps13A protein interacts with actin and regulates the level of phosphatidylinositol 4-phosphate (PI4P) in the membranes of neuronal cells. Yeast Vps13 is involved in vacuolar protein transport and, like hVps13A, participates in PI4P metabolism. Vps13 proteins are conserved in eukaryotes, but their molecular function...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.