Product nameHuman SLC2A1 knockout HeLa cell lysate
Cell line information
Parental cell line: HeLa
Organism: Homo sapiens
Gene editing information
Editing tool: CRISPR/Cas9
Mutation: Homozygous: 1 bp deletion in exon 2.
Knockout validation: Confirmed by Sanger sequencing.
Reconstitution instructions: To use as a WB control, resuspend in 45 µL of Sample buffer (40% (w/v) Glycerol, 4% (w/v) Lithium Dodecyl Sulfate, 4% Ficoll 400, 0.025% Phenol Red, 0.025% Brilliant Blue G250, 2 mM EDTA) and 5 µL of DTT to resuspend @ 2mg/ml. Mix well, then boil the sample for 10 minutes before loading it onto the gel.
User storage instructions: Upon receiving, lysate can be diluted with 1 x SDS sample buffer & will be stable at -20°C for 12 months. Long term storage at -80°C.
Knockout validationSanger Sequencing
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This product is subject to limited use licenses from The Broad Institute and ERS Genomics Limited, and is developed with patented technology. For full details of the limited use licenses and relevant patents please refer to our limited use license and patent pages.
Storage instructionsStore at -80°C. Please refer to protocols.
Components 1 kit Human SLC2A1 knockout HeLa cell lysate (Lyophilized) 1 x 100µg Human Wild Type HeLa cell lysate (Lyophilized) 1 x 100µg
FunctionFacilitative 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.
Tissue specificityExpressed at variable levels in many human tissues.
Involvement in diseaseDefects in SLC2A1 are the cause of glucose transporter type 1 deficiency syndrome (GLUT1DS) [MIM:606777]; 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) [MIM:612126]. 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.
Sequence similaritiesBelongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
modificationsPhosphorylated upon DNA damage, probably by ATM or ATR.
Cellular localizationCell membrane. Melanosome. Localizes primarily at the cell surface (By similarity). Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
- Information by UniProt
- Choreoathetosis/spasticity episodic (paroxysmal choreoathetosis/spasticity)
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
ab263768 has not yet been referenced specifically in any publications.