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Article

Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations.

Human mutation - 1 Jan 2009

Visser W Edward, Jansen Jurgen, Friesema Edith C H, Kester Monique H A, Mancilla Edna, Lundgren Johan, van der Knaap Marjo S, Lunsing Roelineke J, Brouwer Oebele F, Visser Theo J

Abstract excerpt

Monocarboxylate transporter 8 (MCT8; approved symbol SLC16A2) facilitates cellular uptake and efflux of 3,3',5-triiodothyronine (T3). Mutations in MCT8 are associated with severe psychomotor retardation, high serum T3 and low 3,3',5'-triiodothyronine (rT3) levels. Here we report three novel MCT8 mutations. Two subjects with the F501del mutation have mild psychomotor retardation with slightly elevated T3 and...

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PMID: 18636565
DOI: 10.1002/humu.20808

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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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