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 Central carbon metabolism in cancer and Metabolism of water-soluble vitamins and cofactors. 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). In association with BSG and NXNL1, promotes retinal cone survival by increasing glucose uptake into photoreceptors (By similarity).
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.