The molecular basis of neutral aminoacidurias

被引：37

作者：

Bröer, A

Cavanaugh, JA

Rasko, JEJ

Bröer, S

机构：

[1] Australian Natl Univ, Sch Biochem & Mol Biol, Canberra, ACT 0200, Australia

[2] Canberra Hosp, ANU Med Sch, Med Genet Res Unit, Woden, ACT, Australia

[3] Royal Prince Alfred Hosp, Sydney Canc Ctr, Newtown, NSW 2042, Australia

[4] Univ Sydney, Centenary Inst Canc Med & Cell Biol, Newtown, NSW 2042, Australia

来源：

PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY | 2006年 / 451卷 / 04期

关键词：

iminoglycinuria; Hartnup disorder; SLC6A19; SLC6A20; SLC36A1 neurotransmitter transporter; proton amino acid transporter;

D O I：

10.1007/s00424-005-1481-8

中图分类号：

Q4 [生理学];

学科分类号：

071003 ;

摘要：

Recent success in the molecular cloning and identification of apical neutral amino acid transporters has shed a new light on inherited neutral amino acidurias, such as Hartnup disorder and Iminoglycinuria. Hartnup disorder is caused by mutations in the neutral amino acid transporter B-0 AT1 (SLC6A19). The transporter is found in kidney and intestine, where it is involved in the resorption of all neutral amino acids. The molecular defect underlying Iminoglycinuria has not yet been identified. However, two transporters, the proton amino acid transporter PAT1 (SLC36A1) and the IMINO transporter (SLC6A20) appear to play key roles in the resorption of glycine and proline. A model is presented, involving all three transporters that can explain the phenotypic variability of iminoglycinuria.

引用

页码：511 / 517

页数：7

共 67 条

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