title: 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.affiliation: Department of Biochemistry and Molecular Biology, Faculty of Biology and Institut de Recerca Biomedica de Barcelona, Barcelona Science Park, University of Barcelona, Spain. mpalacin@pcb.ub.edu
authors.forename: Manuel
authors.initials: M
authors.lastname: Palacín
authors.forename: Virginia
authors.initials: V
authors.lastname: Nunes
authors.forename: Mariona
authors.initials: M
authors.lastname: Font-Llitjós
authors.forename: Maite
authors.initials: M
authors.lastname: Jiménez-Vidal
authors.forename: Joana
authors.initials: J
authors.lastname: Fort
authors.forename: Emma
authors.initials: E
authors.lastname: Gasol
authors.forename: Marta
authors.initials: M
authors.lastname: Pineda
authors.forename: Lidia
authors.initials: L
authors.lastname: Feliubadaló
authors.forename: Josep
authors.initials: J
authors.lastname: Chillarón
authors.forename: Antonio
authors.initials: A
authors.lastname: Zorzano
mesh_terms: D026905:Amino Acid Transport Systems / Q000235:genetics*; D000818:Animals; D002352:Carrier Proteins / Q000737:chemistry* / Q000235:genetics*; D003555:Cystinuria / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D000608:Renal Aminoacidurias / Q000235:genetics* / Q000503:physiopathology
chemical_list: D026905:Amino Acid Transport Systems; D002352:Carrier Proteins