The genetics of heteromeric amino acid transporters

被引：108
|
作者：
Palacín, M
Nunes, V
Font-Llitjós, M
Jiménez-Vidal, M
Fort, J
Gasol, E
Pineda, M
Feliubadaló, L
Chillarón, J
Zorzano, A
机构：
[1] Univ Barcelona, Dept Biochem & Mol Biol, Fac Biol, Barcelona, Spain
[2] Univ Barcelona, Inst Recerca Biomed Barcelona, Barcelona, Spain
[3] Inst Recerca Oncol, Ctr Genet Med & Mol, Barcelona, Spain
来源：
PHYSIOLOGY | 2005年 / 20卷
关键词：
D O I：
10.1152/physiol.00051.2004
中图分类号：
Q4 [生理学];
学科分类号：
071003 ;
摘要：
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 (BOAT1; SLC6A19)] and knockout mouse models have begun to reveal the basis of renal and intestinal reabsorption of amino acids in mammals,
引用
收藏
页码：112 / 124
页数：13
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