| Modification Notes |
Y+L amino acid transporter 1 (Y+LAT1), also designated monocyte amino acid permease 2 (MOP-2), is an integral membrane protein. Y+LAT1 is an L-type amino acid transporter (LAT) and belongs to the amino acid-polyamine-organocation (APC) superfamily of proteins. The gene encoding for the Y+LAT1 protein, SLC7A7, which maps to chromosome 14q11.2, has 11 exons and 10 introns spanning 18 kb of genomic DNA. Y+LAT1 shows dibasic amino acid transport activity. Lysinuric protein intolerance (LPI) is an autosomal recessive multisystem disorder caused by defects in the cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in intestins and kidney. The gene SLC7A7 is mutated in LPI, which is characterized by vomiting, poor feeding, diarrhea and occasionally, episodes of hyperammoniaemic coma. Y+LAT1 is expressed in kidney, lung, peripheral blood leukocytes, placenta, spleen and small intestine. |