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Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance

โœ Scribed by Maria Pia Sperandeo; Maria Teresa Bassi; Mirko Riboni; Giancarlo Parenti; Anna Buoninconti; Marta Manzoni; Barbara Incerti; Maria Rosaria Larocca; Maja Di Rocco; Pietro Strisciuglio; Irma Dianzani; Rossella Parini; Miranda Candito; Fumio Endo; Andrea Ballabio; Generoso Andria; Gianfranco Sebastio; Giuseppe Borsani

Book ID
117853106
Publisher
American Society of Human Genetics
Year
2000
Tongue
English
Weight
107 KB
Volume
66
Category
Article
ISSN
0002-9297

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Lysinuric protein intolerance (LPI) is an inherited hyperdibasic aminoaciduria caused by defective cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in the intestine and kidney. LPI is relatively common in Finland and a few clusters of patients are known in Italy an

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Two distinct human light subunits of the heteromeric amino acid transporter, y+LAT-1 coded by SLC7A7 and y+LAT-2 coded by SLC7A6, are both known to induce transport system y+L activity. SLC7A7 has already been identified as the gene responsible for lysinuric protein intolerance (LPI). We successfull