Kleta, R. and Romeo, E. and Ristic, Z. and Ohura, T. and Stuart, C. and Arcos-Burgos, M. and Dave, M. H. and Wagner, C. A. and Camargo, S. R. M. and Inoue, S. and Matsuura, N. and Helip-Wooley, A. and Bockenhauer, D. and Warth, Richard and Bernardini, I. and Visser, G. and Eggermann, T. and Lee, P. and Chairoungdua, A. and Jutabha, P. and Babu, E. and Nilwarangkoon, S. and Anzai, N. and Kanai, Y. and Verrey, F. and Gahl, W. A. and Koizumi, A. (2004) Mutations in SLC6A19, encoding B(0)AT1, cause Hartnup disorder. NATURE GENETICS, 36 (9). pp. 999-1002. ISSN 1061-4036, 1546-1718
Full text not available from this repository. (Request a copy)Abstract
Hartnup disorder, an autosomal recessive defect named after an English family described in 1956 (ref. 1), results from impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra (rashes), cerebellar ataxia and psychosis(1,2). Using homozygosity mapping in the original family in whom Hartnup disorder was discovered, we confirmed that the critical region for one causative gene was located on chromosome 5p15 (ref. 3). This region is homologous to the area of mouse chromosome 13 that encodes the sodium-dependent amino acid transporter B(0)AT1 (ref. 4). We isolated the human homolog of B(0)AT1, called SLC6A19, and determined its size and molecular organization. We then identified mutations in SLC6A19 in members of the original family in whom Hartnup disorder was discovered and of three Japanese families. The protein product of SLC6A19, the Hartnup transporter, is expressed primarily in intestine and renal proximal tubule and functions as a neutral amino acid transporter.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | RECESSIVE TRAITS; TRANSPORTER; NEPHRON; |
| Subjects: | 500 Science > 570 Life sciences |
| Divisions: | Biology, Preclinical Medicine > Institut für Physiologie > Prof. Dr. Richard Warth |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 29 Jun 2021 06:58 |
| Last Modified: | 29 Jun 2021 06:58 |
| URI: | https://pred.uni-regensburg.de/id/eprint/37287 |
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