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Cat. No.: DPP-001081
| Product Overview | |
|---|---|
| Species | Human |
| Format | Liquid |
| Purity | ≥97% by SDS-PAGE |
| Nature | Synthetic |
| Target Information | |
|---|---|
| Gene Name | SLC2A1 |
| UniProt No. | P11166 |
| Gene ID | 6513 |
| Alternative Names | Choreoathetosis/spasticity episodic (paroxysmal choreoathetosis/spasticity); CSE; DYT17; DYT18; DYT9; EIG12; erythrocyte/brain; Erythrocyte/hepatoma glucose transporter; facilitated glucose transporter member 1; Glucose transporter 1; Glucose transporter type 1; Glucose transporter type 1, erythrocyte/brain; GLUT; GLUT-1; GLUT1; GLUT1DS; GLUTB; GT1; GTG1; Gtg3; GTR1_HUMAN; HepG2 glucose transporter; HTLVR; Human T cell leukemia virus (I and II) receptor; MGC141895; MGC141896; PED; RATGTG1; Receptor for HTLV 1 and HTLV 2; SLC2A1; Solute carrier family 2; Solute carrier family 2 (facilitated glucose transporter), member 1; Solute carrier family 2, facilitated glucose transporter member 1 |
| Function | Facilitative glucose transporter. This isoform may be responsible for constitutive or basal glucose uptake. Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses. |
| Involvement In Disease | Defects in SLC2A1 are the cause of glucose transporter type 1 deficiency syndrome (GLUT1DS); also known as blood-brain barrier glucose transport defect. This disease causes a defect in glucose transport across the blood-brain barrier. It is characterized by infantile seizures, delayed development, and acquired microcephaly.Defects in SLC2A1 are the cause of dystonia type 18 (DYT18). DYT18 is an exercise-induced paroxysmal dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT18 is characterized by attacks of involuntary movements triggered by certain stimuli such as sudden movement or prolonged exercise. In some patients involuntary exertion-induced dystonic, choreoathetotic, and ballistic movements may be associated with macrocytic hemolytic anemia. |
| Cellular Localization | Cell membrane. Melanosome. Localizes primarily at the cell surface (By similarity). Identified by mass spectrometry in melanosome fractions from stage I to stage IV. |
| Protein Family/Domains | Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. |
| Shipping & Storage | |
|---|---|
| Shipping | Shipped on dry ice. |
| Storage | Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle. |
Ace Therapeutics has a team of experts in the field of endocrine and metabolic research, aiming to provide innovative preclinical contract research solutions to cope with diabetes and its complications. We provide customized solutions and technical support, enabling the transformation of promising concepts into innovative treatments, thus accelerating the drug development process of diabetes.
