SLC25A48 is a human mitochondrial choline transporter
Patil, S.; Borisov, O.; Scherer, N.; Wirth, C.; Schlosser, P.; Wuttke, M.; Eckardt, K.-U.; Hunte, C.; Neubauer, B.; Kottgen, A.; Kottgen, M.
Show 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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