Abstract
AbstractCholine 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 inSLC25A48are associated with elevated urine and plasma choline levels resulting from impaired choline transport into mitochondria.
Publisher
Cold Spring Harbor Laboratory
Cited by
1 articles.
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