Abcam, ab265134, Human PNKD knockout HeLa cell line

Size: 2 x 1000000Cells / vial / 1000000Cells / vial
PNKD KO cell line available to order. KO validated by. Free of charge wild type control available. Knockout achieved by using CRISPR/Cas9, 3 bp deletion in exon 1 and 4 bp deletion in exon 1. To order both knockout and wild-type control cells: select 2 x 1000000Cells/vial. To order only knockout cells: select 1000000Cells/vial.
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, 3 bp deletion in exon 1 and 4 bp deletion in exon 1,
Disease:Adenocarcinoma

Product details:
We will provide viable cells that proliferate on revival.
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-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.
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.