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. ©2005 Int. Union Physiol. Sci./Am. Physiol. Soc.
CITATION STYLE
Palacín, M., Nunes, V., Font-Llitjós, M., Jiménez-Vidal, M., Fort, J., Gasol, E., … Zorzano, A. (2005). The genetics of heteromeric amino acid transporters. Physiology. American Physiological Society. https://doi.org/10.1152/physiol.00051.2004
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