Thiamine transporter 2 (ThTr-2)

Thiamine transporter 2 is a transmembrane protein expressed in multiple tissues, notably in the central nervous system, where it mediates the entry of water-soluble thiamine into cells for subsequent use in cellular energy-generating pathways. It transports thiamine with high affinity and specificity, likely via a proton antiport mechanism. Mutations in the SLC19A3 gene disrupt transporter function, resulting in severe neurological disorders such as biotin-responsive basal ganglia disease, Leigh-like encephalopathy, and Wernicke-like syndromes. ThTr-2 does not transport folate or biotin and can be specifically inhibited by chloroquine. Therapeutic management may include high doses of thiamine and biotin, with free thiamine serving as a disease biomarker. Early and adequate therapy is essential for favorable clinical outcomes, highlighting the target's importance in metabolic and neural health.

Other names

Solute carrier family 19 member 3 (SLC19A3)ThTr-2ThTr2

High-dose biotin and thiamine therapy restores thiamine transport and mitochondrial function in certain genetically linked encephalopathies; Chloroquine acts as an inhibitor by blocking the transporter