The genetics of heteromeric amino acid transporters.
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.
Palacín
Manuel
M
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
Nunes
Virginia
V
Font-Llitjós
Mariona
M
Jiménez-Vidal
Maite
M
Fort
Joana
J
Gasol
Emma
E
Pineda
Marta
M
Feliubadaló
Lidia
L
Chillarón
Josep
J
Zorzano
Antonio
A
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
D026905:Amino Acid Transport Systems; D002352:Carrier Proteins