RGD Reference Report - Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. - Rat Genome Database
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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.

Authors: Kleta, R  Romeo, E  Ristic, Z  Ohura, T  Stuart, C  Arcos-Burgos, M  Dave, MH  Wagner, CA  Camargo, SR  Inoue, S  Matsuura, N  Helip-Wooley, A  Bockenhauer, D  Warth, R  Bernardini, I  Visser, G  Eggermann, T  Lee, P  Chairoungdua, A  Jutabha, P  Babu, E  Nilwarangkoon, S  Anzai, N  Kanai, Y  Verrey, F  Gahl, WA  Koizumi, A 
Citation: Kleta R, etal., Nat Genet. 2004 Sep;36(9):999-1002. Epub 2004 Aug 1.
RGD ID: 1600035
Pubmed: (View Article at PubMed) PMID:15286787
DOI: Full-text: DOI:10.1038/ng1405

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.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Slc6a19  (solute carrier family 6 member 19)


Additional Information