Gene: EPM2A
Official Full Name: EPM2A glucan phosphatase, laforinprovided by HGNC
Gene Summary: This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]
Catalog Number | Product Name | Species | Gene | Passage ratio | Mycoplasma testing | Price |
---|---|---|---|---|---|---|
KO34374 | EPM2A Knockout cell line (HeLa) | Human | EPM2A | 1:3~1:6 | Negative | Online Inquiry |
KO34375 | EPM2A Knockout cell line (HCT 116) | Human | EPM2A | 1:2~1:4 | Negative | Online Inquiry |
KO34376 | EPM2A Knockout cell line (HEK293) | Human | EPM2A | 1:3~1:6 | Negative | Online Inquiry |
KO34377 | EPM2A Knockout cell line (A549) | Human | EPM2A | 1:3~1:4 | Negative | Online Inquiry |
EPM2A Gene Knockout Cell Lines are specialized cellular models generated to enable the functional study of the EPM2A gene, which is crucial in glycogen metabolism and various cellular signaling pathways. These cell lines are created through precise gene editing techniques, such as CRISPR/Cas9, allowing for the specific disruption of the EPM2A gene's coding sequence. By knocking out this gene, researchers can explore its physiological roles in cellular processes, particularly those related to glycogen storage diseases and neurodegenerative disorders.
The primary function of EPM2A Gene Knockout Cell Lines lies in their ability to mimic disease states that are associated with mutations or dysfunctions in the EPM2A gene. These models provide insights into the mechanistic pathways that lead to associated pathologies, facilitating investigations into metabolic dysregulation and neuronal degeneration. By analyzing gene expression changes and metabolic outcomes in these knockout cells, researchers can identify potential therapeutic targets and refine treatment strategies for conditions such as Lafora disease.
In clinical and research settings, these cell lines are invaluable tools for drug discovery, genetic research, and functional genomics. The ability to study the consequences of EPM2A loss enables a deeper understanding of related diseases, potentially leading to the development of intervention strategies and novel therapeutic agents. Additionally, EPM2A Gene Knockout Cell Lines feature convenient growth requirements and reproducibility, making them accessible for high-throughput screening and reproducible experiments.
Unique to our offering, these cell lines are developed under rigorously controlled conditions with characterized cellular backgrounds, ensuring genetic stability and phenotypic reliability. This reduces the variability often seen with alternative models, providing researchers with a consistent foundation for their experimental frameworks.
Our commitment to advancing biotechnology through innovative product development is reflected in the EPM2A Gene Knockout Cell Lines. With a robust portfolio of genetically engineered models and an emphasis on quality, we are dedicated to supporting researchers and clinicians in unveiling the complexities of human disease and contributors to cellular functions.
Please note that all services are for research use only. Not intended for any clinical use.
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