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

Seow, Heng; Broer, Stefan; Broer, Angelika; Bailey, Charles; Potter, Simon; Cavanaugh, Juleen; Rasko, John Edward

Description

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...[Show more]

dc.contributor.authorSeow, Heng
dc.contributor.authorBroer, Stefan
dc.contributor.authorBroer, Angelika
dc.contributor.authorBailey, Charles
dc.contributor.authorPotter, Simon
dc.contributor.authorCavanaugh, Juleen
dc.contributor.authorRasko, John Edward
dc.date.accessioned2015-12-13T22:40:00Z
dc.date.available2015-12-13T22:40:00Z
dc.identifier.issn1061-4036
dc.identifier.urihttp://hdl.handle.net/1885/78035
dc.description.abstractHartnup 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.
dc.publisherNature Publishing Group
dc.sourceNature Genetics
dc.subjectKeywords: amino acid transporter; chloride; neutral amino acid transporter; sodium; unclassified drug; amino acid transport; article; autosomal recessive disorder; chromosome 5p; compound heterozygote; controlled study; gastrointestinal tract; gene; gene frequency;
dc.titleHartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19
dc.typeJournal article
local.description.notesImported from ARIES
local.description.refereedYes
local.identifier.citationvolume36
dc.date.issued2004
local.identifier.absfor060110 - Receptors and Membrane Biology
local.identifier.absfor070508 - Tree Nutrition and Physiology
local.identifier.ariespublicationMigratedxPub6729
local.type.statusPublished Version
local.contributor.affiliationSeow, Heng, University of Sydney
local.contributor.affiliationBroer, Stefan, College of Medicine, Biology and Environment, ANU
local.contributor.affiliationBroer, Angelika, College of Medicine, Biology and Environment, ANU
local.contributor.affiliationBailey, Charles, Centenary Institute of Cancer Medicine and Cell Biology
local.contributor.affiliationPotter, Simon, University of Sydney
local.contributor.affiliationCavanaugh, Juleen, College of Medicine, Biology and Environment, ANU
local.contributor.affiliationRasko, John Edward, University of Sydney
local.bibliographicCitation.issue9
local.bibliographicCitation.startpage1003
local.bibliographicCitation.lastpage1007
local.identifier.doi10.1038/ng1406
dc.date.updated2015-12-11T09:53:23Z
local.identifier.scopusID2-s2.0-4444377675
CollectionsANU Research Publications

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