SLC25A48 is a human mitochondrial choline transporter

Summary

Choline has important physiological functions as a precursor for essential cell components and signaling molecules including phospholipids and the neurotransmitter acetylcholine. Membrane transport of choline is incompletely understood. Here, we show that the physiological function of SLC25A48 in humans is choline import into mitochondria. Loss-of-function mutations in SLC25A48 impair choline transport into mitochondria, thereby causing higher levels of free choline in urine and plasma. The deorphanization of SLC25A48 defines its molecular function in humans and enables future well-powered studies addressing its role in health and disease.