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.
GLUT2 is a facilitative hexose transporter that mediates the transport of glucose and fructose, which likely mediates the bidirectional transfer of glucose across the plasma membrane of hepatocytes and is responsible for uptake of glucose by the beta cells; may comprise part of the glucose-sensing mechanism of the beta cell. GLUT2 may participate with the Na+/glucose cotransporter in the transcellular transport of glucose in the small intestine and kidney and is also able to mediate the transport of dehydroascorbate.
A group of related glucose transporters (Glut1-5 and 7) mediate the facilitated diffusion of glucose in nonepithelial mammalian tissues. Glucose transporter 3 (Glut3), also known as SLC2A3, has a higher affinity for glucose than the ubiquitous glucose transporter Glut1. In the normal brain, Glut3 expression is limited to neurons, whereas Glut1 is expressed in both neurons and glia. Glioblastoma-derived brain tumor initiating cells (BTICs) express increased levels of Glut3, enabling their survival in the microenvironment deficient in glucose. In addition, Glut3 expression levels correlate with poor survival in brain tumors. Glucose transporter 4 (Glut4) is a 12-transmembrane domain protein that facilitates glucose transport in the direction of the glucose gradient. This transporter localizes to intracellular organelles (endosomes) in unstimulated cells and translocates to the cell surface following insulin stimulation. Translocation of Glut4 is dependent on Akt, which may act by phosphorylating AS160, a RabGAP protein involved in membrane trafficking.The antibody can detect both GLUT3 and GLUT4.
Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
AMPA receptors (AMPARs) are comprised of four subunits (GluR 1-4) that assemble as homo- or hetero-tetramers and mediate the majority of fast excitatory transmissions in the CNS. AMPARs are implicated in synapse formation, stabilization and plasticity. Glutamate receptor 3 (GluR3) knockout mice exhibited normal basal synaptic transmission and long-term depression (LTD) but enhanced long-term potentiation (LTP). In contrast, GluR 2/3 double knockout mice are impaired in basal synaptic transmission. Aberrant GluR3 expression or activity is implicated in a number of diseases, including autoimmune epilepsy, X-linked mental retardation, Rett's syndrome, amyotrophic lateral sclerosis and Alzheimer disease.
This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants.
The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants.
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