Product nameHuman SDHAF2 knockout HeLa cell lysate
Cell line information
Parental cell line: HeLa
Organism: Homo sapiens
Gene editing information
Editing tool: CRISPR/Cas9
Mutation: 1 bp deletion in exon1 and 2 bp deletion in exon1.
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 SDHAF2 knockout HeLa cell lysate (Lyophilized) 1 x 100µg Human Wild Type HeLa cell lysate (Lyophilized) 1 x 100µg
FunctionRequired for insertion of FAD cofactor into SDHA, the catalytic subunit of succinate dehydrogenase (SDH). SDH is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). In is unclear whether it participates in the chemistry of FAD attachment (enzymatic function) or acts as a chaperone that maintains SDHA in a conformation that is susceptible to autocatalytic FAD attachment.
Involvement in diseaseDefects in SDHAF2 are the cause of hereditary paragangliomas type 2 (PGL2) [MIM:601650]; also known as familial non-chromaffin paragangliomas type 2. Paragangliomas refer to rare and mostly benign tumors that arise from any component of the neuroendocrine system. PGL2 is characterized by the development of non-chromaffin paragangliomas of the head and neck. There is a fairly equal distribution of different locations in the head and neck, with the most common location at the carotid body, and a tendency toward tumor multiplicity.
Sequence similaritiesBelongs to the SDHAF2 family.
- Information by UniProt
- Chromosome 11 open reading frame 79
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.
ab263341 has not yet been referenced specifically in any publications.