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Article

A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.

European journal of human genetics : EJHG - 1 May 2005

Sperandeo Maria P, Paladino Simona, Maiuri Luigi, Maroupulos George D, Zurzolo Chiara, Taglialatela Maurizio, Andria Generoso, Sebastio Gianfranco

Abstract excerpt

Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in the intestine and kidney. The SLC7A7 gene, mutated in LPI, encodes the y(+)LAT-1 protein, which is the light subunit of the heterodimeric CAA transporter in which 4F2hc is the heavy chain subunit. Co-expression of 4F2hc and y(+)LAT-1 induces...

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Share to Amino Acid Metabolism, Inborn Errors
Share to Amino Acid Transport Systems, Basic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15756301
DOI: 10.1038/sj.ejhg.5201376

Genes

LAT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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