Skip navigation
Skip navigation

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

Broer, Stefan


Hartnup 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...[Show more]

CollectionsANU Research Publications
Date published: 2009
Type: Journal article
Source: IUBMB Life
DOI: 10.1002/iub.210


File Description SizeFormat Image
01_Broer_The_Role_of_the_Neutral_Amino_2009.pdf306.98 kBAdobe PDF    Request a copy

Items in Open Research are protected by copyright, with all rights reserved, unless otherwise indicated.

Updated:  12 November 2018/ Responsible Officer:  University Librarian/ Page Contact:  Library Systems & Web Coordinator