Description
Key facts
Cell type:HEK-293T,
Species or organism:Human,
Tissue:Kidney,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, Homozygous: 1 bp insertion in exon 1
Product details:
We will provide viable cells that proliferate on revival.
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-DMPK, 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.
Dystrophia myotonica protein kinase also known as DMPK is a serine-threonine kinase with a molecular mass of approximately 69 kDa. The protein localizes mainly in muscle heart and brain tissues serving critical roles in cellular signaling. DMPK influences various cellular processes through its kinase activity modulating several substrates by phosphorylation. This protein is generally expressed in the cytoplasm but can also localize to membranes influencing ion channel activity and cytoskeletal dynamics.
Biological function summary
DMPK acts to regulate muscle function and integrity by modulating phosphorylation states within cells. It is not typically part of known multi-protein complexes but works alongside other kinases to affect signaling pathways. For example DMPK can influence actin filaments and myosin phosphorylation contributing to muscle cell contractility and stability. This regulatory function is essential for the maintenance of normal muscle tone and function.
Pathways
DMPK participates actively in RhoA and MAPK signaling pathways. DMPK impacts the RhoA pathway by regulating cytoskeletal organization and cell morphology interacting with proteins like Rho kinase to modulate muscle contraction. In the MAPK pathway DMPK plays a role in stress response signaling impacting proteins such as ERK that control gene expression in response to stressors.
DMPK is strongly connected to myotonic dystrophy type 1 (DM1) a genetic disorder characterized by muscle weakness and myotonia. Aberrant expression of DMPK due to triplet repeat expansions in its gene leads to toxic RNA accumulation disrupting normal cellular function. This disorder also shares pathogenic features with MBNL1 where both proteins influence RNA-binding and processing contributing to the DM1 phenotype. Understanding the role of DMPK in these conditions may offer insights into potential therapeutic strategies.
