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Article

Hartnup disorder: polymorphisms identified in the neutral amino acid transporter SLC1A5.

Journal of inherited metabolic disease - 1 Oct 2002

Potter S J, Lu A, Wilcken B, Green K, Rasko J E J

Abstract excerpt

Hartnup disorder is an inborn error of renal and gastrointestinal neutral amino acid transport. The cloning and functional characterization of the 'system B0' neutral amino acid transporter SLC1A5 led to it being proposed as a candidate gene for Hartnup disorder. Linkage analysis performed at 19q13.3, the chromosomal position of SLC1A5, was suggestive of an association with the Hartnup phenotype in some families....

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Identifiers

PMID: 12555937
DOI: 10.1023/a:1021286714582

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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.

Related research

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Hartnup disorder: polymorphisms identified in the neutral amino acid transporter SLC1A5.PMID 12555937Read ↗

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

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Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.Semantic proximity Read ↗

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A protein complex in the brush-border membrane explains a Hartnup disorder allele.Semantic proximity Read ↗

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