The Genetics of Heteromeric Amino Acid Transporters
Manuel Palacı́n(Barcelona Biomedical Research Park), Virginia Nunes, Mariona Font-Llitjós, Maite Jiménez-Vidal(Barcelona Biomedical Research Park), Joana Fort(Barcelona Biomedical Research Park), Emma Gasol(Barcelona Biomedical Research Park), Marta Pineda(Barcelona Biomedical Research Park), Lídia Feliubadaló, Josep Chillarón(Barcelona Biomedical Research Park), António Zorzano(Barcelona Biomedical Research Park)
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Abstract
Heteromeric amino acid transporters (HATs) are composed of a heavy (SLC3 family) and a light (SLC7 family) subunit. Mutations in system b(0,+) (rBAT-b(0,+)AT) and in system y(+)L (4F2hc-y(+)LAT1) cause the primary inherited aminoacidurias (PIAs) cystinuria and lysinuric protein intolerance, respectively. Recent developments [including the identification of the first Hartnup disorder gene (B0AT1; SLC6A19)] and knockout mouse models have begun to reveal the basis of renal and intestinal reabsorption of amino acids in mammals.
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