{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSLC19A2 encodes thiamine transporter‐1 (THTR1), a high‐affinity, membrane‐bound carrier that is essential for the uptake of thiamine (vitamin B1) into a wide variety of human cells. Thiamine is a critical cofactor for enzymes involved in energy metabolism, and THTR1’s activity in tissues such as the bone marrow, pancreas, retina, and kidney underpins normal cellular function. Disruption of SLC19A2 function by mutations results in the thiamine‐responsive megaloblastic anemia (TRMA) syndrome—a rare autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the molecular level, the SLC19A2 protein is comprised of multiple transmembrane domains that are critical for proper intracellular routing and cell surface expression. Detailed structure–function studies have revealed the importance of both its amino‐terminal and backbone integrity for accurate targeting to the plasma membrane, with distinct cis‐acting promoter elements—such as binding sites for GKLF, NF‑1, and SP‑1—contributing to transcriptional regulation. In addition, post‐translational modifications, including glycosylation, are important for stability and function. Alterations by disease‐causing mutations can impair thiamine uptake by interrupting transporter trafficking or intrinsic transport activity. Such molecular defects not only explain the TRMA phenotype but also suggest that altered SLC19A2 function may broadly disturb thiamine homeostasis in polarized epithelial cells and other tissues."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "29"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond transcriptional and structural regulation, SLC19A2 function is also modulated post‐transcriptionally and in response to environmental cues. Recent studies have uncovered a role for microRNAs (for example, miR‑200a‑3p) in downregulating THTR1 expression in pancreatic acinar cells, thereby impacting thiamine uptake under different metabolic or stress conditions. Similarly, specific mutations and drug interactions further underscore the sensitivity of the SLC19A2 transport process to perturbations, establishing this transporter as a potential target for therapeutic intervention in TRMA and related thiamine insufficiency disorders."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "30", "end_ref": "42"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "William H Lagarde, Louis E Underwood, Billie M Moats-Staats, et al. 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