Document Detail

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
MedLine Citation:
PMID:  15286787     Owner:  NLM     Status:  MEDLINE    
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.
Robert Kleta; 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
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2004-08-01
Journal Detail:
Title:  Nature genetics     Volume:  36     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  2004 Sep 
Date Detail:
Created Date:  2004-09-01     Completed Date:  2004-10-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  999-1002     Citation Subset:  IM    
Medical Genetics Branch, 10 Center Drive, MSC 1851, Building 10, Room 10C-107, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/AY596807; RefSeq/XM_291120
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MeSH Terms
Amino Acid Sequence
Amino Acid Transport Systems, Neutral / genetics
Base Sequence
Chromosome Mapping
Hartnup Disease / genetics*
Kidney / metabolism
Mice, Inbred C57BL
Molecular Sequence Data
Reg. No./Substance:
0/Amino Acid Transport Systems, Neutral; 0/SLC6A19 protein, human

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