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AB263305

Human PNKD knockout HeLa cell lysate

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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.

View Alternative Names

2210013N15Rik, 2810403H05Rik, AI854243, BRAIN PROTEIN 17, BRP17, DYT8, FKSG19, FPD1, KIAA1184, KIPP1184, MNCb-5687, MR-1, Myofibrillogenesis regulator 1, PDC, PKND1, PNKD_HUMAN, Paroxysmal nonkinesiogenic dyskinesia protein, Probable hydrolase PNKD, TAHCCP2, Trans-activated by hepatitis C virus core protein 2

4 Images
Sanger Sequencing - Human PNKD knockout HeLa cell lysate (AB263305)
  • Sanger seq

Unknown

Sanger Sequencing - Human PNKD knockout HeLa cell lysate (AB263305)

Allele-1 : 4 bp deletion in exon 1

Sanger Sequencing - Human PNKD knockout HeLa cell lysate (AB263305)
  • Sanger seq

Unknown

Sanger Sequencing - Human PNKD knockout HeLa cell lysate (AB263305)

Allele-2 : 3 bp deletion in exon 1

Sanger Sequencing - Human PNKD knockout HeLa cell lysate (AB263305)
  • Sanger seq

Unknown

Sanger Sequencing - Human PNKD knockout HeLa cell lysate (AB263305)

Allele-3 :

Sanger Sequencing - Human PNKD knockout HeLa cell lysate (AB263305)
  • Sanger seq

Unknown

Sanger Sequencing - Human PNKD knockout HeLa cell lysate (AB263305)

Allele-4 :

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 and patent pages.

What's included?

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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.

Quality control

STR analysis

CSF1PO, D13S317, D7S820, D5S818, TH01, D16S539, TPOX

Cell culture

Biosafety level

EU: 2 US: 2

Adherent/suspension

Adherent

Gender

Female

Product protocols

Product promise

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Please note: All products are 'FOR RESEARCH USE ONLY. NOT FOR USE IN DIAGNOSTIC OR THERAPEUTIC PROCEDURES'.

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