Description
Key facts
Cell type:HeLa,
Species or organism:Human,
Tissue:Cervix,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, Homozygous: 321 bp insertion in exon 1,
Disease:Adenocarcinoma
Product details:
We will provide viable cells that proliferate on revival.
Western blot data indicates that the CRISPR gene edit may have resulted in a truncation of the protein of interest. Please see data images.
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
patent pages
Properties and Storage Information:
Gene name-APTX, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Zygosity-Homozygous, Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--196°C, Appropriate long-term storage conditions--196°C
Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
Aprataxin also known as APTX is a protein involved in DNA repair. It belongs to the histidine triad superfamily and has a molecular mass of approximately 40 kDa. The protein is expressed in various tissues including the brain liver and kidney. Aprataxin's main role involves the repair of DNA strand breaks by removing abnormal DNA termini. It restores DNA integrity which is critical for maintaining cellular functions.
Biological function summary
Aprataxin plays an important role in the DNA single-strand break repair processes. It functions within the DNA repair machinery often as part of complexes with other repair proteins. This protein mainly interacts with other partners like XRCC1 and PARP1 to facilitate accurate DNA repair. Its interaction ensures proper response to DNA damage safeguarding the genome's stability and function.
Pathways
Aprataxin is integrally connected to the base excision repair (BER) pathway and the DNA damage response pathway. These pathways are fundamental mechanisms for repairing damaged DNA and preserving cell viability. Within these pathways Aprataxin closely collaborates with related proteins like XRCC1 and PARP1. These associations highlight Aprataxin's role in ensuring the efficiency and success of DNA repair processes.
Mutations or malfunctions in Aprataxin are linked to neurological conditions such as ataxia with oculomotor apraxia 1 (AOA1) and spinocerebellar ataxia with axonal neuropathy (SCAN1). These disorders are marked by progressive loss of movement coordination and peripheral neuropathy. In the context of these diseases Aprataxin interacts with proteins involved in neuronal maintenance and protection such as TDP-43 and p53. Disruptions in such interactions often result in the observed pathological manifestations.
