The genetics of heteromeric amino acid transporters.

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.

• Authors: Manuel Palacín, Virginia Nunes, Mariona Font-Llitjós, Maite Jiménez-Vidal, Joana Fort, Emma Gasol, Marta Pineda, Lidia Feliubadaló, Josep Chillarón, Antonio Zorzano
• Journal: Physiology (Bethesda, Md.) (Physiology (Bethesda)) Vol. 20 Pg. 112-24 (Apr 2005) ISSN: 1548-9213 [Print] United States
• PMID: 15772300 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• Amino Acid Transport Systems
• Carrier Proteins

Topics

• Amino Acid Transport Systems (genetics)
• Animals
• Carrier Proteins (chemistry, genetics)
• Cystinuria (genetics, physiopathology)
• Humans
• Renal Aminoacidurias (genetics, physiopathology)