The genetics of heteromeric amino acid transporters
M Palacín, V Nunes, M Font-Llitjós… - …, 2005 - journals.physiology.org
Physiology, 2005•journals.physiology.org
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.
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.
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.
American Physiological Society