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. 2004 Sep;36(9):999-1002.
doi: 10.1038/ng1405. Epub 2004 Aug 1.

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

Robert Kleta  1 , Elisa Romeo, Zorica Ristic, Toshihiro Ohura, Caroline Stuart, Mauricio Arcos-Burgos, Mital H Dave, Carsten A Wagner, Simone R M Camargo, Sumiko Inoue, Norio Matsuura, Amanda Helip-Wooley, Detlef Bockenhauer, Richard Warth, Isa Bernardini, Gepke Visser, Thomas Eggermann, Philip Lee, Arthit Chairoungdua, Promsuk Jutabha, Ellappan Babu, Sirinun Nilwarangkoon, Naohiko Anzai, Yoshikatsu Kanai, Francois Verrey, William A Gahl, Akio Koizumi
Affiliations

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

Robert Kleta et al. Nat Genet. 2004 Sep.

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. 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.

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