Journal of the American Society of NephrologyGenetic & Genomic MedicinePeer-reviewed journal article
SLC25A48 is a human mitochondrial choline transporter
Suraj Dasharath Patil, Oleg BorisoviD, Nora SchereriD, Christophe WirthiD, Pascal SchlosseriD, Matthias WuttkeiD, Kai-Uwe Eckardt, Carola HunteiD, Björn NeubaueriD, Anna KöttgeniD, Michael KöttgeniD
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Abstract
Choline has important physiological functions as a precursor for essential cell components and signaling molecules including phospholipids and the neurotransmitter acetylcholine. Choline is a water-soluble charged molecule and therefore requires transport proteins to cross biological membranes. Membrane transport of choline is incompletely understood. Here we show that SLC25A48 is a human mitochondrial choline transporter. Loss-of-function mutations in SLC25A48 are associated with elevated urine and plasma choline levels resulting from impaired choline transport into mitochondria.
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