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Article

The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.

The AAPS journal - 1 Mar 2021

Enogieru Osatohanmwen J, Koleske Megan L, Vora Bianca, Ngo Huy, Yee Sook Wah, Chatad Derrick, Sirota Marina, Giacomini Kathleen M

Abstract excerpt

A rare cause of megaloblastic anemia (MA) is thiamine-responsive megaloblastic anemia (TRMA), a genetic disorder caused by mutations in SLC19A2 (encoding THTR1), a thiamine transporter. The study objectives were to (1) functionally characterize selected TRMA-associated SLC19A2 variants and (2) determine whether current prescription drugs associated with drug-induced MA (DIMA) may act via inhibition of SLC19A2....

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Identifiers

PMID: 33649974
DOI: 10.1208/s12248-021-00562-4
PMCID: PMC7921063

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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