SLC25A48 is a human mitochondrial choline transporter
Suraj Dasharath Patil, Oleg Borisov, Nora Scherer, Christophe Wirth, Pascal Schlosser, Matthias Wuttke, Kai-Uwe Eckardt, Carola Hunte, Björn Neubauer, Anna Köttgen, Michael Köttgen
This study identifies SLC25A48 as a human mitochondrial choline transporter and shows that loss-of-function mutations lead to elevated choline levels in urine and plasma.
Journal of the American Society of Nephrology · Oct 1, 2024Peer-reviewedGenetic & Genomic Medicine