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Thiamine transporter 1

Molecular classification: Transporter, Membrane protein

Overview

Thiamine transporter 1 (SLC19A2) is a transmembrane protein responsible for transporting thiamine (vitamin B1) into cells. It plays a crucial role in cellular metabolism and energy production. Mutations in SLC19A2 can lead to Thiamine-responsive megaloblastic anemia syndrome (TRMA), characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness.

Other names: SLC19A2TC1THTR1TRMA proteinTHMD1

Mechanism of action

High-dose thiamine can bypass defective transporters via passive diffusion, partially restoring thiamine levels in cells.

Biological functions

Thiamine transportVitamin B1 transportCellular uptake of thiamineNutrient transport

Disease associations

Thiamine-responsive megaloblastic anemia syndrome (TRMA)Rogers syndromeMegaloblastic anemiaDiabetes mellitusSensorineural deafness

Safety considerations

Hearing loss may not be completely reversible with thiamine treatment in TRMA.Diabetes may not be completely reversible with thiamine treatment in TRMA.

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