SLC2A1

The SLC2A1 gene encodes glucose transporter type 1 (GLUT1), a transmembrane protein responsible for facilitative diffusion of glucose across plasma membranes. Also known as solute carrier family 2 member 1, GLUT1 is highly expressed in endothelial cells of the blood-brain barrier, erythrocytes, and astrocytes, serving as the primary mediator of basal glucose uptake in these tissues. Functioning via a conformational cycling mechanism, it enables energy-independent transport along concentration gradients. GLUT1 is implicated in insulin-independent glucose homeostasis and intersects with pathways including HIF-1α-mediated hypoxia response and mTOR signaling. Deficiencies cause GLUT1 deficiency syndrome (GLUT1-DS), characterized by neurodevelopmental delays and seizures, while overexpression correlates with tumor progression in cancers such as breast carcinoma and glioblastoma. Therapeutic strategies for GLUT1-DS focus on ketogenic diets to bypass cerebral glucose dependency, whereas oncology research targets GLUT1 inhibition using small molecules like BAY-876 or siRNA approaches. Recent clinical trials explore GLUT1 modulators for metabolic disorders and chemoresistance reversal in malignancies.