Reaction: Defective SLC7A7 does not exchange L-Arg for L-Leu, Na+ across the plasma membrane
SLC7A7 encodes the y+L amino acid transporter 1 (y+LAT1). As a heterodimer with SLC3A2 in the plasma membrane, SLC7A7 mediates the exchange of arginine (L-Arg) for leucine (L-Leu) and a sodium ion (Na+). The physiological concentrations of arginine and leucine are expected to favor arginine export. Defects in SLC7A7 can cause Lysinuric protein intolerance (LPI; MIM:222700), a metabolic disorder characterised by decreased cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in the intestine and kidney, increased renal excretion of CAA and orotic aciduria. Mutations in SLC7A7 that can cause LPI include M50K, T188I, L334R, W242*, Y457* and T299Ifs*10 (Sperandeo et al. 2005, Torrents et al. 1999, Sperandeo et al. 2000, Borgani et al. 1999).
Reaction - small molecule participants:
L-Arg [cytosol]
L-Leu [extracellular region]
Na+ [extracellular region]
Reactome.org reaction link: R-HSA-5660910
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Reaction input - small molecules:
L-argininium(1+)
L-leucine zwitterion
sodium(1+)
Reaction output - small molecules:
Reactome.org link: R-HSA-5660910