Product nameHuman PNKD knockout HeLa cell lysate
Cell line information
Parental cell line: HeLa
Organism: Homo sapiens
Gene editing information
Editing tool: CRISPR/Cas9
Mutation: 3 bp deletion in exon 1 and 4 bp deletion 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 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 PNKD knockout HeLa cell lysate (Lyophilized) 1 x 100µg Human Wild Type HeLa cell lysate (Lyophilized) 1 x 100µg
FunctionProbable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway.
Tissue specificityIsoform 1 is only expressed in the brain. Isoform 2 is ubiquitously detected with highest expression in skeletal muscle and detected in myocardial myofibrils. Variant Val-7 and Val-9 are detected in the brain only.
Involvement in diseaseDefects in PNKD are the cause of dystonia type 8 (DYT8) [MIM:118800]. DYT8 is a paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT8 is characterized by attacks of involuntary movements brought on by stress, alcohol, fatigue or caffeine. The attacks generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face.
Sequence similaritiesBelongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
modificationsIsoform 2 is phosphorylated at Ser-121 upon DNA damage, probably by ATM or ATR.
Cellular localizationCytoplasm. Nucleus; Mitochondrion and Membrane.
- Information by UniProt
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.
ab263305 has not yet been referenced specifically in any publications.