Slc2A1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
Solute Carrier Family 2 Member 1 (GLUT1)
| Gene Symbol | SLC2A1 |
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| Full Name | Solute Carrier Family 2 Member 1 (Glucose Transporter 1, GLUT1) |
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| Chromosomal Location | 1p34.2 |
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| NCBI Gene ID | 6513 |
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| OMIM | 138140 |
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| Ensembl ID | ENSG00000117394 |
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| UniProt ID | P11166 |
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| Associated Diseases | Alzheimer's Disease, Parkinson's Disease, GLUT1 Deficiency, Epilepsy, Stroke |
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SLC2A1 Gene is involved in biological pathways relevant to neurodegenerative diseases. It plays important roles in neuronal function, cellular signaling, or stress response mechanisms.
Dysregulation or mutations in this gene/protein contribute to the pathogenesis of Alzheimer's disease, Parkinson's disease, and related neurodegenerative disorders.
SLC2A1 encodes glucose transporter 1 (GLUT1), the primary glucose transporter at the blood-brain barrier. This protein facilitates glucose uptake into cells and is essential for brain energy metabolism.
Key functions include:
- Glucose transport: Mediates glucose uptake across the blood-brain barrier
- Brain energy: Provides glucose to neurons and glial cells
- BBB function: Highly expressed in brain capillary endothelial cells
- Hexose transport: Transports glucose, mannose, galactose, and other hexoses
- Metabolic regulation: Essential for neuronal metabolism and function
GLUT1 is a facilitative glucose transporter (SLC2 family) with 12 transmembrane domains.
GLUT1 dysfunction is implicated in AD:
- Brain glucose hypometabolism: Reduced GLUT1 expression in AD brain
- BBB dysfunction: GLUT1 reduction contributes to impaired glucose delivery
- Amyloid relationship: Aβ may downregulate GLUT1 expression
- Cognitive decline: Reduced glucose metabolism correlates with cognitive impairment
- Therapeutic target: Enhancing GLUT1 may improve brain energy metabolism
GLUT1 may play a role in PD:
- Metabolic dysfunction: Altered glucose metabolism in PD brain
- Neuronal vulnerability: Reduced glucose transport may increase dopaminergic neuron susceptibility
- Mitochondrial dysfunction: GLUT1 impairment may exacerbate energy deficits
Mutations in SLC2A1 cause GLUT1 deficiency:
- Seizures: Early-onset epilepsy
- Developmental delay: Cognitive impairment
- Ataxia: Movement abnormalities
- Microcephaly: Reduced brain growth
- Treatment: Ketogenic diet provides alternative fuel
SLC2A1 shows tissue-specific expression:
- Blood-brain barrier: Highest expression in brain capillary endothelial cells
- Erythrocytes: Expressed in red blood cells
- Tissue: Moderate expression in many tissues
- Neurons: Low to moderate expression in neurons
- Astrocytes: Expressed in astrocyte end-feet
Expression is regulated by glucose levels, hypoxia, and metabolic demand.
- Mueckler M, et al. (1985). Sequence and structure of a human glucose transporter. Science. 229(4717):941-945.
- Duelli R, et al. (2000). Glucose transporter (GLUT-1) immunoreactivity in human brain: a postmortem study. Journal of Cerebral Blood Flow & Metabolism. 20(4):631-635.
- Winkler EA, et al. (2015). Blood-brain barrier and neurovascular unit. Neurobiology of Disease. 72(Pt A):1-10.
- Kalaria RN, et al. (1989). Glucose transporter (Glut1) in Alzheimer's disease brains. Brain Research. 481(2):334-341.
Last updated: 2026-03-05
The study of Slc2A1 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
- UniProt - Protein information
- NCBI Gene - Gene database