Abcam, ab263305, Human PNKD knockout HeLa cell lysate

Size: 1Kit
PNKD KO cell lysate available now. KO validated by. Free of charge wild type control included. Knockout achieved by using CRISPR/Cas9, 3 bp deletion in exon 1 and 4 bp deletion in exon 1.
Key facts
Cell type:HeLa,
Species or organism:Human,
Tissue:Cervix,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, 3 bp deletion in exon 1 and 4 bp deletion in exon 1.,
Disease:Adenocarcinoma

Product details:
Knockout cell lysate achieved by CRISPR/Cas9.
REACH authorisation
Abcam has not and does not intend to apply for the REACH Authorisation of customers' uses of products that contain European Authorisation list (Annex XIV) substances.
It is the responsibility of our customers to check the necessity of application of REACH Authorisation, and any other relevant authorisations, for their intended uses.
Lysate preparation:
Our lysates are made using RIPA buffer to which we add a protease inhibitor cocktail and phosphatase inhibitor cocktail (ratio: 300:100:10).
This means that the protein of interest is denatured.
If you require a native form of the protein please use the live cell version. Please refer to our lysis protocol for further details on how our lysates are prepared.
User storage instructions:
Lyophilizate may be stored at 4°C. After reconstitution, store at -20°C for short-term storage or -80°C for long-term storage.
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
patent pages

Properties and Storage Information:
Gene name-PNKD, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Shipped at conditions-Ambient - Can Ship with Ice, Appropriate short-term storage conditions--20°C, Appropriate long-term storage conditions--20°C

Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
PNKD also known as myofibrillogenesis regulator 1 (MR-1) is a protein encoded by the PNKD gene. PNKD plays a mechanical role as it regulates myofibrillogenesis which is important for muscle development and cardiomyocyte function. The protein has a mass of approximately 46 kDa. It is expressed widely in human tissues with higher expression noted in the brain and muscle tissues. PNKD is found in both cytoplasm and the nucleus where it interacts with cellular structures essential for proper myofibril formation.
Biological function summary
PNKD is involved in muscle contraction and neurological signaling. It is a part of a larger complex that affects calcium ion binding and muscle contraction. By aiding in the assembly of sarcomeric structures PNKD ensures the stability and proper functioning of muscle fibers. In the nervous system it appears to participate in modulating synaptic activity implying a role in neural communication and plasticity.
Pathways
PNKD participates in intracellular signaling associated with muscle contraction and synaptic function. In the calcium signaling pathway it interacts with proteins such as actin and tropomyosin to facilitate muscle function. Furthermore PNKD associates with pathways affecting neurotransmitter release at synapses implicating proteins like synapsin and SNAP-25 which are important for synaptic vesicle docking and release.
PNKD mutations can lead to paroxysmal nonkinesigenic dyskinesia (PNKD) a neurological disorder characterized by involuntary movements. This condition highlights the necessity of PNKD in proper neuronal signaling. Moreover PNKD's interaction with calcium-binding proteins links it to certain types of hereditary cardiomyopathy as disruptions in calcium homeostasis can provoke cardiac muscle dysfunction. The protein's association with synaptic pathways further relates it to disorders affecting neurotransmission efficiency.