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
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene
✍ Scribed by Palacín, Manuel; Torrents, David; Mykkänen, Juha; Pineda, Marta; Feliubadaló, Lidia; Estévez, Raúl; Cid, Rafael de; Sanjurjo, Pablo; Zorzano, Antonio; Nunes, Virginia; Huoponen, Kirsi; Reinikainen, Arja; Simell, Olli; Savontaus, Marja-Liisa; Aula, Pertti
- Book ID
- 109826940
- Publisher
- Nature Publishing Group
- Year
- 1999
- Tongue
- English
- Weight
- 602 KB
- Volume
- 21
- Category
- Article
- ISSN
- 1061-4036
- DOI
- 10.1038/6809
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📜 SIMILAR VOLUMES
Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in the intestine and kidney. LPI is caused by mutations in the SLC7A7 gene, which encodes the y(+)LAT-1 protein, the catalytic lig
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