If you are using this app, please cite our publication:
Khan, A., Unlu, G., Lin, P. et al. Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import. Nat Genet (2024). https://doi.org/10.1038/s41588-024-01827-2
Organisms maintain metabolic homeostasis through the combined functions of small-molecule transporters and enzymes. While many metabolic components have been well established, a substantial number remains without identified physiological substrates. To bridge this gap, we have leveraged large-scale plasma metabolome genome-wide association studies (GWAS) to develop a multiomic Gene–Metabolite Association Prediction (GeneMAP) discovery platform. GeneMAP can generate accurate predictions and even pinpoint genes that are distant from the variants implicated by GWAS. In particular, our analysis identified SLC25A48 as a genetic determinant of plasma choline levels. Mechanistically, solute carrier family 25 member 48 (SLC25A48) loss strongly impairs mitochondrial choline import and synthesis of its downstream metabolite betaine.
