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Physiology 20: 112-124, 2005; doi:10.1152/physiol.00051.2004
1548-9213/05 $8.00
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Physiology, Vol. 20, No. 2, 112-124, April 2005
© 2005 Int. Union Physiol. Sci./Am. Physiol. Soc.

REVIEW

The Genetics of Heteromeric Amino Acid Transporters

Manuel Palacín1, Virginia Nunes2, Mariona Font-Llitjós2, Maite Jiménez-Vidal1,2, Joana Fort1, Emma Gasol1, Marta Pineda1, Lidia Feliubadaló2, Josep Chillarón1 and Antonio Zorzano1

1 Department of Biochemistry and Molecular Biology, Faculty of Biology and Institut de Recerca Biomedica de Barcelona, Barcelona Science Park, University of Barcelona, and
2 Centre de Genètica Mèdica i Molecular, Institut de Recerca Oncològica, Barcelona, Spain.

mpalacin{at}pcb.ub.edu

Heteromeric amino acid transporters (HATs) are composed of a heavy (SLC3 family) and a light (SLC7 family) subunit. Mutations in system b0,+ (rBAT-b0,+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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