Solute carrier family 2, facilitated glucose transporter member 1

SLC2A1 encodes a facilitative glucose transporter responsible for basal glucose uptake across cell membranes. The protein has broad substrate specificity for aldoses and serves a critical role at the blood-brain barrier, mediating energy-independent glucose transport into the brain (UniProt: P11166). SLC2A1 is also required for mesendoderm differentiation and, in association with other proteins, promotes retinal cone survival through enhanced glucose uptake.

SLC2A1 is expressed at the blood-brain barrier and throughout neural tissues, supporting the brain's primary energy metabolism. Genetic variants in SLC2A1 cause multiple neurological disorders including GLUT1 deficiency syndromes 1 and 2 (presenting with seizures, developmental delay, and paroxysmal dyskinesia), idiopathic generalized epilepsy, and dystonia 9 (UniProt: P11166).

In Alzheimer's disease, SLC2A1 is significantly upregulated in post-mortem AD brain tissue compared to age-matched controls (Chaparral AD proteomics; mean log2FC = 0.4854). This elevation may reflect an adaptive response to meet increased metabolic demand or compensatory mechanisms in neurodegenerative pathology, given the brain's dependence on glucose transport for energy homeostasis.