Gene: ATXN2
Official Full Name: ataxin 2provided by HGNC
Gene Summary: This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Catalog Number | Product Name | Species | Gene | Passage ratio | Mycoplasma testing | Price |
---|---|---|---|---|---|---|
KO01919 | ATXN2 Knockout cell line (HeLa) | Human | ATXN2 | 1:3~1:6 | Negative | Online Inquiry |
KO01920 | ATXN2 Knockout cell line (HCT 116) | Human | ATXN2 | 1:2~1:4 | Negative | Online Inquiry |
KO01921 | ATXN2 Knockout cell line (HEK293) | Human | ATXN2 | 1:3~1:6 | Negative | Online Inquiry |
KO01922 | ATXN2 Knockout cell line (A549) | Human | ATXN2 | 1:3~1:4 | Negative | Online Inquiry |
ATXN2 Gene Knockout Cell Lines are specifically engineered cell lines that have had the ATXN2 gene disrupted, creating a valuable tool for exploring the biological functions and pathological roles of this gene in various cellular contexts. ATXN2 is crucial for multiple cellular mechanisms, including mRNA metabolism, neuronal function, and stress responses. The knockout of this gene allows researchers to investigate its contributions to cellular behavior and to understand the implications of its dysregulation in diseases such as spinocerebellar ataxia type 2.
The core functionality of the ATXN2 Gene Knockout Cell Lines lies in their ability to provide a controlled environment for studying the loss-of-function effects associated with ATXN2. By utilizing CRISPR/Cas9 or similar gene editing technologies, these cell lines enable precise studies of signaling pathways, gene interactions, and protein functions that involve ATXN2. Researchers can perform experiments such as drug screening, gene expression analysis, and cellular assays to uncover novel insights into neurodegeneration and related disorders.
The scientific importance of these cell lines is underscored by their applications in both research and clinical settings. Understanding the role of ATXN2 not only contributes to our knowledge of genetic ataxias but also aids in the development of targeted gene therapies and molecular interventions, making them essential for advancing therapeutic strategies.
Compared to other models, ATXN2 Gene Knockout Cell Lines provide unique advantages such as a clear and reproducible phenotype associated with gene knockout, compatibility with high-throughput screening, and flexibility in various experimental setups. This specific knockout model allows researchers to delineate the specific functional contributions of ATXN2 without the confounding effects present in other genetic backgrounds.
Moreover, the availability of these specialized cell lines holds immense value for researchers and clinicians alike. They serve as a robust platform for investigating the mechanistic pathways involved in neurological disorders, potentially leading to breakthroughs in treatment approaches. The ability to dissect the cellular implications of ATXN2 knockout enhances therapeutic exploration in neurobiology.
As pioneers in the field of gene editing and cellular model development, our company leverages advanced technologies and expertise to deliver high-quality biological products, ensuring researchers have access to the tools necessary for groundbreaking discoveries in genetic research and beyond.
Please note that all services are for research use only. Not intended for any clinical use.
If your question is not addressed through these resources, you can fill out the online form below and we will answer your question as soon as possible.
There is no product in your cart. |
CD Biosynsis is a leading customer-focused biotechnology company dedicated to providing high-quality products, comprehensive service packages, and tailored solutions to support and facilitate the applications of synthetic biology in a wide range of areas.