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Article

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

Nature genetics - 1 Sept 2004

Seow Heng F, Bröer Stefan, Bröer Angelika, Bailey Charles G, Potter Simon J, Cavanaugh Juleen A, Rasko John E J

Abstract excerpt

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,...

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Share to Amino Acid Sequence
Share to Amino Acid Transport Systems, Neutral

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15286788
DOI: 10.1038/ng1406

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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