Product nameHuman PEX5 knockout HEK293T cell lysate
Cell line information
Parental cell line: HEK293T
Organism: Homo sapiens
Gene editing information
Editing tool: CRISPR/Cas9
Mutation: Insertion of the selection cassette in exon3.
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 PEX5 knockout HEK293T cell lysate (Lyophilized) 1 x 100µg Human Wild Type HEK293T cell lysate (Lyophilized) 1 x 100µg
FunctionBinds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import.
Tissue specificityDetected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
Involvement in diseaseDefects in PEX5 are a cause of adrenoleukodystrophy neonatal (NALD) [MIM:202370]. NALD is a peroxisome biogenesis disorder (PBD) characterized by the accumulation of very long-chain fatty acids, adrenal insufficiency and mental retardation. Inheritance is autosomal recessive.
Defects in PEX5 are a cause of Zellweger syndrome (ZWS) [MIM:214100]. ZWS is a fatal peroxisome biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocular abnormalities, renal cysts, hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the first year of life.
Defects in PEX5 may be a cause of infantile Refsum disease (IRD) [MIM:266510]. IRD is a mild peroxisome biogenesis disorder (PBD). Clinical features include early onset, mental retardation, minor facial dysmorphism, retinopathy, sensorineural hearing deficit, hepatomegaly, osteoporosis, failure to thrive, and hypocholesterolemia. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.
Sequence similaritiesBelongs to the peroxisomal targeting signal receptor family.
Contains 7 TPR repeats.
Cellular localizationCytoplasm. Peroxisome membrane. Its distribution appears to be dynamic. It is probably a cycling receptor found mainly in the cytoplasm and as well associated to the peroxisomal membrane through a docking factor.
- Information by UniProt
ab263294 has not yet been referenced specifically in any publications.