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The molecular basis of neutral aminoacidurias

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Abstract

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 B0 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.

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Notes

  1. In this review, we will use the term ‘transport system’, when referring to transport activities determined in tissue preparations and use the name of cloned cDNAs when referring to the transport proteins.

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Authors and Affiliations

  1. School of Biochemistry and Molecular Biology, Australian National University, Canberra, ACT 0200, Australia

    Angelika Bröer & Stefan Bröer

  2. Medical Genetics Research Unit, ANU Medical School, The Canberra Hospital, Woden, ACT 2607, Australia

    Juleen A. Cavanaugh

  3. Gene and Stem Cell Therapy, Centenary Institute of Cancer Medicine and Cell Biology, University of Sydney and Sydney Cancer Centre, Royal Prince Alfred Hospital, Locked Bag No. 6, Newtown, NSW 2042, Australia

    John E. J. Rasko

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  1. Angelika Bröer
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  2. Juleen A. Cavanaugh
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  3. John E. J. Rasko
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  4. Stefan Bröer
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Correspondence to Stefan Bröer.

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Bröer, A., Cavanaugh, J.A., Rasko, J.E.J. et al. The molecular basis of neutral aminoacidurias. Pflugers Arch - Eur J Physiol 451, 511–517 (2006). https://doi.org/10.1007/s00424-005-1481-8

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