Article
Expression of normal and mutant GFP-tagged y(+)L amino acid transporter-1 in mammalian cells.
Biochemical and biophysical research communications - 15 Mar 2002
Toivonen Minna, Mykkänen Juha, Aula Pertti, Simell Olli, Savontaus Marja-Liisa, Huoponen Kirsi
Abstract excerpt
Lysinuric protein intolerance (LPI; MIM 222700) is an autosomal recessive disorder characterized by defective transport of cationic amino acids lysine, arginine and ornithine. The defect is localized in the basolateral membrane of polar epithelial cells of the renal tubules and intestine. The SLC7A7 (solute carrier family 7, member 7) gene that encodes y(+)LAT-1 (y(+)L amino acid transporter-1) is mutated in LPI,...
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