The molecular bases of cystinuria and lysinuric protein intolerance

Cystinuria and lysinuric protein intolerance are inherited aminoacidurias c aused by defective amino-acid transport activities linked to a family of he teromeric amino-acid transporters (HATs). HATs comprise two subunits: cc-ex pression of subunits 4F2hc and y(+)LAT-1 induces the efflux of dibasic amin o acids from cells, whereas cc-expression of subunits rBAT and b(o,+)AT ind uces the renal reabsorption and intestinal absorption of cystine and dibasi c amino acids at the brush border of epithelial cells. Recently, the role o f b(o,t)AT (SLC7A9) in cystinuria (non Type I) and the role of y(+)LAT-1 (S LC7A7) in lysinuric protein intolerance have been demonstrated.