The Genetics of Heteromeric Amino Acid Transporters

  • Palacín M
  • Nunes V
  • Font-Llitjós M
 et al. 
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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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Authors

  • Manuel Palacín

  • Virginia Nunes

  • Mariona Font-Llitjós

  • Maite Jiménez-Vidal

  • Joana Fort

  • Emma Gasol

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