Article
Interactions of y+LAT1 and 4F2hc in the y+l amino acid transporter complex: consequences of lysinuric protein intolerance-causing mutations.
General physiology and biophysics - 1 Dec 2013
Toivonen Minna, Tringham Maaria, Kurko Johanna, Terho Perttu, Simell Olli, Heiskanen Kaisa M, Mykkänen Juha
Abstract excerpt
Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by recessive mutations in the SLC7A7 gene encoding y+L amino acid transporter 1 (y+LAT1), which combines with 4F2hc to generate an active transporter responsible for the system y+L amino acid transport. We have previously shown that the y+LAT1 proteins with point mutations are expressed in the plasma membrane, while those with frameshift...
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