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

页码：112 / 124

页数：13

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