Gene: UBE3A
Official Full Name: ubiquitin protein ligase E3Aprovided by HGNC
Gene Summary: This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
Catalog Number | Product Name | Species | Gene | Passage ratio | Mycoplasma testing | Price |
---|---|---|---|---|---|---|
KO00509 | UBE3A Knockout cell line (HEK293) | Human | UBE3A | 1:3~1:6 | Negative | Online Inquiry |
KO05788 | UBE3A Knockout cell line (HeLa) | Human | UBE3A | 1:3~1:6 | Negative | Online Inquiry |
KO05789 | UBE3A Knockout cell line (HCT 116) | Human | UBE3A | 1:2~1:4 | Negative | Online Inquiry |
KO05790 | UBE3A Knockout cell line (A549) | Human | UBE3A | 1:3~1:4 | Negative | Online Inquiry |
UBE3A Gene Knockout Cell Lines represent a cutting-edge biological tool essential for the study of neurodevelopmental disorders, particularly Angelman syndrome. These cell lines are genetically engineered to lack the UBE3A gene, a vital component implicated in synaptic function and neuronal maturation. The knockout mechanism is achieved through advanced CRISPR/Cas9 gene-editing technology, enabling precise disruption of the UBE3A allele. Utilizing these cell lines allows researchers to investigate the gene's role in cognitive and motor functions, thus providing insights into the molecular basis of associated pathologies.
Functionally, UBE3A is an E3 ubiquitin ligase involved in the ubiquitination pathway, regulating protein degradation and influencing various cellular processes. By studying UBE3A knockout models, scientists can elucidate the gene's impact on synaptic plasticity, neuronal excitability, and behavior. Such research holds significant promise for developing targeted therapies for debilitating conditions resulting from UBE3A dysfunction.
The scientific importance of these cell lines extends to their application in drug discovery, genetic studies, and cellular modeling of neurodevelopmental disorders. They serve as invaluable resources for both academic and clinical research, enabling the evaluation of therapeutic interventions and biomarker identification.
Our UBE3A Gene Knockout Cell Lines provide a focused, efficient approach for scientists over traditional methodologies, which may involve broader genetic modifications or less precise techniques. They ensure higher specificity and reproducibility of results, streamlining the research process.
For researchers and clinicians, the value of UBE3A knockout cell lines lies in their capacity to enhance understanding of crucial biological functions and disease mechanisms, paving the way for innovations in treatment. Our company prides itself on leveraging expertise in gene editing technology to supply high-quality, customizable models that meet the evolving needs of the scientific community. Our commitment to precision and excellence in biological products positions us as a trusted partner in advancing research and therapeutic development.
Please note that all services are for research use only. Not intended for any clinical use.
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