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Article

Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria.

The Journal of clinical investigation - 1 Jan 2011

Bailey Charles G, Ryan Renae M, Thoeng Annora D, Ng Cynthia, King Kara, Vanslambrouck Jessica M, Auray-Blais Christiane, Vandenberg Robert J, Bröer Stefan, Rasko John E J

Abstract excerpt

Solute carrier family 1, member 1 (SLC1A1; also known as EAAT3 and EAAC1) is the major epithelial transporter of glutamate and aspartate in the kidneys and intestines of rodents. Within the brain, SLC1A1 serves as the predominant neuronal glutamate transporter and buffers the synaptic release of the excitatory neurotransmitter glutamate within the interneuronal synaptic cleft. Recent studies have also revealed...

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Identifiers

PMID: 21123949
DOI: 10.1172/JCI44474
PMCID: PMC3007158

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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.

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