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The Role of the Neutral Amino acid Transporter B0AT1 (SLC6A19) in Hartnup Disorder and Protein Nutrition

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dc.contributor.authorBroer, Stefan
dc.date.accessioned2015-12-10T22:16:25Z
dc.date.issued2009
dc.date.updated2015-12-09T08:23:53Z
dc.description.abstractHartnup disorder (OMIM 234500) is an autosomal recessive disorder, which was first described in 1956 as an aminoaciduria of neutral amino acids accompanied by a variety of symptoms, such as a photo-sensitive skin-rash and cerebellar ataxia. The disorder is caused by mutations in the neutral amino acid transporter B0AT1 (SLC6A19)1. To date 21 mutations have been identified in more than twenty families. SLC6A19 requires either collectrin or angiotensin-converting enzyme 2 for surface expression in the kidney and intestine, respectively. This ties SLC6A19 together with more complex functions such as blood-pressure control, glomerular structure, and exocytosis.
dc.identifier.issn1521-6543
dc.identifier.urihttp://hdl.handle.net/1885/50930
dc.publisherTaylor & Francis Group
dc.sourceIUBMB Life
dc.titleThe Role of the Neutral Amino acid Transporter B0AT1 (SLC6A19) in Hartnup Disorder and Protein Nutrition
dc.typeJournal article
local.bibliographicCitation.issue6
local.bibliographicCitation.lastpage599
local.bibliographicCitation.startpage591
local.contributor.affiliationBroer, Stefan, College of Medicine, Biology and Environment, ANU
local.contributor.authoruidBroer, Stefan, u4009041
local.description.embargo2037-12-31
local.description.notesImported from ARIES
local.identifier.absfor060110 - Receptors and Membrane Biology
local.identifier.ariespublicationu4325460xPUB213
local.identifier.citationvolume61
local.identifier.doi10.1002/iub.210
local.identifier.scopusID2-s2.0-69449090536
local.identifier.thomsonID000266676400006
local.type.statusPublished Version

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