Gene: C9orf72
Official Full Name: C9orf72-SMCR8 complex subunitprovided by HGNC
Gene Summary: The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]
Catalog Number | Product Name | Species | Gene | Passage ratio | Mycoplasma testing | Price |
---|---|---|---|---|---|---|
KO00289 | C9orf72 Knockout cell line (HeLa) | Human | C9orf72 | 1:3~1:6 | Negative | Online Inquiry |
KO36071 | C9orf72 Knockout cell line (HCT 116) | Human | C9orf72 | 1:2~1:4 | Negative | Online Inquiry |
KO36072 | C9orf72 Knockout cell line (HEK293) | Human | C9orf72 | 1:3~1:6 | Negative | Online Inquiry |
KO36073 | C9orf72 Knockout cell line (A549) | Human | C9orf72 | 1:3~1:4 | Negative | Online Inquiry |
C9orf72 Gene Knockout Cell Lines are specialized cellular models that have been genetically engineered to lack the C9orf72 gene, which has been implicated in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This product serves as a vital tool for researchers studying the pathology of neurodegenerative diseases by allowing for the investigation of C9orf72 function and the mechanistic pathways involved in neurodegeneration.
The key function of these knockout cell lines lies in their ability to mimic the absence of the C9orf72 protein, which is essential for understanding its role in cellular processes such as autophagy, RNA metabolism, and stress granule dynamics. Using CRISPR/Cas9 technology, these cell lines were designed to provide a reliable platform for examining how the absence of this gene contributes to disease phenotypes, offering insights into potential therapeutic targets.
The scientific importance of C9orf72 Gene Knockout Cell Lines cannot be overstated. They are invaluable in research settings for elucidating the molecular underpinnings of ALS and FTD, facilitating drug development, and testing potential therapies. In clinical contexts, they offer a pathway for identifying biomarkers and therapeutic strategies based on the underlying genetic disruption associated with these diseases.
What sets our C9orf72 Gene Knockout Cell Lines apart from alternatives available on the market is the high level of genetic precision achieved through advanced editing techniques and extensive validation processes. These advantages ensure reproducibility and reliability in experimental conditions, which are crucial for obtaining meaningful data.
For researchers and clinicians engaged in neurodegenerative disease research, these knockout cell lines represent a vital resource. Their use supports pioneering work aimed at finding effective interventions for ALS and FTD, ultimately contributing to better patient outcomes.
Our company prides itself on its expertise in genetic engineering and the development of innovative biological products. With a commitment to advancing scientific research and supporting the biomedical community, we continue to deliver high-quality tools that foster discoveries in neurobiology.
Please note that all services are for research use only. Not intended for any clinical use.
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