Defective SLC7A7 does not exchange L-Arg for L-Leu, Na+ across the plasma membrane

Stable Identifier
Reaction [transition]
Homo sapiens
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SLC7A7 encodes the y+L amino acid transporter 1 (y+LAT1). As a heterodimer with SLC3A2 in the plasma membrane, SLC7A7 mediates the exchange of arginine (L-Arg) for leucine (L-Leu) and a sodium ion (Na+). The physiological concentrations of arginine and leucine are expected to favor arginine export. Defects in SLC7A7 can cause Lysinuric protein intolerance (LPI; MIM:222700), a metabolic disorder characterised by decreased cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in the intestine and kidney, increased renal excretion of CAA and orotic aciduria. Mutations in SLC7A7 that can cause LPI include M50K, T188I, L334R, W242*, Y457* and T299Ifs*10 (Sperandeo et al. 2005, Torrents et al. 1999, Sperandeo et al. 2000, Borgani et al. 1999).

Literature References
PubMed ID Title Journal Year
10080183 SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

Sperandeo, MP, De Grandi, A, Sebastio, G, Pepe, A, Manzoni, M, Borsani, G, Ballabio, A, Buoninconti, A, Bassi, MT, Andria, G, Incerti, B, Riboni, M

Nat. Genet. 1999
10080182 Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene

Palacin, M, Aula, P, Savontaus, ML, Pineda, M, Estévez, R, Sanjurjo, P, Nunes, V, Torrents, D, Simell, O, de Cid, R, Reinikainen, A, Mykkänen, J, Feliubadaló, L, Huoponen, K, Zorzano, A

Nat. Genet. 1999
10631139 Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance

Sebastio, G, Parenti, G, Borsani, G, Di Rocco, M, Buoninconti, A, Bassi, MT, Incerti, B, Riboni, M, Strisciuglio, P, Sperandeo, MP, Parini, R, Dianzani, I, Manzoni, M, Ballabio, A, Endo, F, Andria, G, Larocca, MR, Candito, M

Am. J. Hum. Genet. 2000
15776427 Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene

Taglialatela, M, Andria, G, Fiorito, V, Sperandeo, MP, Sebastio, G, Soldovieri, MV, Ammendola, V, Pepe, A, Annunziata, P

Hum. Mutat. 2005
Catalyst Activity

amino acid transmembrane transporter activity of SLC3A2:SLC7A7 mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of SLC3A2:SLC7A7 mutants [plasma membrane]

Name Identifier Synonyms
amino acid metabolic disorder DOID:9252 inborn errors of amino acid metabolism
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