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Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19

Seow, Heng-Fong and Broer, S and Broer, A and Bailey, C and Potter, S and Cavanaugh, J and Rasko, J (2004) Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. Nature Genetics, 36 (9). pp. 1003-1007. ISSN 1061-4036

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Abstract

Hartnup disorder (OMIM 234500) is an autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport noted for its clinical variability. We localized a gene causing Hartnup disorder to chromosome 5p15.33 and cloned a new gene, SLC6A19, in this region. SLC6A19 is a sodium-dependent and chloride-independent neutral amino acid transporter, expressed predominately in kidney and intestine, with properties of system B0. We identified six mutations in SLC6A19 that cosegregated with disease in the predicted recessive manner, with most affected individuals being compound heterozygotes. The disease-causing mutations that we tested reduced neutral amino acid transport function in vitro. Population frequencies for the most common mutated SLC6A19 alleles are 0.007 for 517G A and 0.001 for 718C T. Our findings indicate that SLC6A19 is the long-sought gene that is mutated in Hartnup disorder; its identification provides the opportunity to examine the inconsistent multisystemic features of this disorder.

Item Type: Article
Uncontrolled Keywords: ResPubID19022, Hartnup disorder, mutations, gene encoding, neutral amino acid
Subjects: Faculty/School/Research Centre/Department > School of Biomedical and Health Sciences
FOR Classification > 1107 Immunology
Depositing User: VUIR
Date Deposited: 06 Jul 2011 02:52
Last Modified: 01 Feb 2012 22:13
URI: http://vuir.vu.edu.au/id/eprint/2654
DOI: 10.1038/ng1406
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Citations in Scopus: 98 - View on Scopus

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