Product nameHuman PTS knockout HeLa cell lysate
Cell line information
Parental cell line: HeLa
Organism: Homo sapiens
Gene editing information
Editing tool: CRISPR/Cas9
Mutation: Homozygous: 20 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 PTS knockout HeLa cell lysate (Lyophilized) 1 x 100µg Human Wild Type HeLa cell lysate (Lyophilized) 1 x 100µg
FunctionInvolved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin.
PathwayCofactor biosynthesis; tetrahydrobiopterin biosynthesis; tetrahydrobiopterin from 7,8-dihydroneopterin triphosphate: step 1/3.
Involvement in diseaseDefects in PTS are the cause of BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]; also called 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS deficiency) or hyperphenylalaninemia tetrahydrobiopterin-deficient due to PTS deficiency. HPABH4A is an autosomal recessive disorder characterized by depletion of the neurotransmitters dopamine and serotonin, and clinically by severe neurological symptoms unresponsive to the classic phenylalanine-low diet.
Sequence similaritiesBelongs to the PTPS family.
modificationsPhosphorylation of Ser-19 is required for maximal enzyme activity.
- Information by UniProt
- 6 pyruvoyl tetrahydrobiopterin synthase
- 6 pyruvoyl tetrahydropterin synthase
- 6 pyruvoyltetrahydropterin synthase
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.
ab263322 has not yet been referenced specifically in any publications.