Product nameHuman SCO1 knockout HEK293T cell lysate
Cell line information
Parental cell line: HEK293T
Organism: Homo sapiens
Gene editing information
Editing tool: CRISPR/Cas9
Mutation: 1 bp deletion in exon 1 and 1 bp insertion in exon 1.
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, ERS Genomics Limited and Sigma-Aldrich Co. LLC, and is developed with patented technology. For full details of the licenses and patents please refer to our limited use license and patent pages.
Storage instructionsStore at -80°C. Please refer to protocols.
Components 1 kit Human SCO1 knockout HEK293T cell lysate (Lyophilized) 1 x 100µg Human Wild Type HEK293T cell lysate (Lyophilized) 1 x 100µg
FunctionThought to play a role in cellular copper homeostasis, mitochondrial redox signaling or insertion of copper into the active site of COX.
Tissue specificityPredominantly expressed in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain.
Involvement in diseaseDefects in SCO1 are a cause of mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]; also known as cytochrome c oxidase deficiency. A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, excercise intolerance, developmental delay, delayed motor development and mental retardation. A subset of patients manifest Leigh syndrome.
Sequence similaritiesBelongs to the SCO1/2 family.
- Information by UniProt
- Cytochrome oxidase deficient homolog
- Cytochrome oxidase deficient homolog 1
- Protein SCO1 homolog mitochondrial
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.
ab263340 has not yet been referenced specifically in any publications.