Aliases for SLC2A1 Gene
- Solute Carrier Family 2 Member 1 2 3 5
- Choreoathetosis/Spasticity, Episodic (Paroxysmal Choreoathetosis/Spasticity) 2 3
- Solute Carrier Family 2 (Facilitated Glucose Transporter), Member 1 2 3
- Solute Carrier Family 2, Facilitated Glucose Transporter Member 1 3 4
- Human T-Cell Leukemia Virus (I And II) Receptor 2 3
- Glucose Transporter Type 1, Erythrocyte/Brain 3 4
- HepG2 Glucose Transporter 3 4
- GLUT-1 3 4
- DYT18 2 3
- GLUT1 3 4
External Ids for SLC2A1 Gene
Previous HGNC Symbols for SLC2A1 Gene
Previous GeneCards Identifiers for SLC2A1 Gene
This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]
GeneCards Summary for SLC2A1 Gene
SLC2A1 (Solute Carrier Family 2 Member 1) is a Protein Coding gene. Diseases associated with SLC2A1 include Dystonia 9 and Glut1 Deficiency Syndrome 1. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and HIF1Alpha Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and transmembrane transporter activity. An important paralog of this gene is SLC2A4.
UniProtKB/Swiss-Prot Summary for SLC2A1 Gene
Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake (PubMed:18245775, PubMed:19449892, PubMed:25982116, PubMed:27078104, PubMed:10227690). Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses (PubMed:18245775, PubMed:19449892). Most important energy carrier of the brain: present at the blood-brain barrier and assures the energy-independent, facilitative transport of glucose into the brain (PubMed:10227690).
Glucose transporters enable the movement of glucose, a hydrophilic molecule, across the cell membrane. Glucose is an essential source of energy for mammalian cells, and is also used as a substrate in protein and lipid synthesis.