Gene: NPC1L1
Official Full Name: NPC1 like intracellular cholesterol transporter 1provided by HGNC
Gene Summary: The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Catalog Number | Product Name | Species | Gene | Passage ratio | Mycoplasma testing | Price |
---|---|---|---|---|---|---|
KO01946 | NPC1L1 Knockout cell line (HEK293) | Human | NPC1L1 | 1:3~1:6 | Negative | Online Inquiry |
NPC1L1 Gene Knockout Cell Lines are genetically engineered cell lines specifically targeted to functionally eliminate the NPC1L1 gene, which encodes a protein integral to cholesterol absorption from the intestinal lumen. These knockout cell lines serve as a critical tool for researchers studying lipid metabolism, cholesterol homeostasis, and various associated pathologies. By knocking out NPC1L1, the cellular uptake of cholesterol is significantly inhibited, allowing for a more focused investigation into the gene's role in both normal physiology and disease states.
The primary mechanism of these cell lines involves the guided disruption of the NPC1L1 gene using CRISPR/Cas9 technology, leading to frameshift mutations that hinder the translation of functional protein. This gene disruption alters cholesterol absorption pathways, enabling research into the downstream effects on cellular signaling, metabolism, and potential implications in conditions such as hyperlipidemia and atherosclerosis.
Scientifically, NPC1L1 gene knockout cell lines play a pivotal role in drug discovery and development, particularly for cholesterol-lowering therapies such as ezetimibe, which targets this very pathway. In clinical settings, they are invaluable for understanding individual variations in lipid metabolism, ultimately guiding personalized medicine approaches.
Compared to alternative methods such as siRNA knockdowns, the NPC1L1 knockout cell lines provide a permanent and stable model for long-term studies, facilitating reproducibility and deeper insights into gene function. They offer a high degree of specificity and efficiency in eliminating gene expression, making them a superior choice for researchers focused on metabolic diseases.
For researchers and clinicians, the ability to utilize NPC1L1 gene knockout cell lines can streamline investigations, lead to significant findings in the lipid research domain, and contribute to the advancement of therapeutic interventions. Our company has extensive experience in developing specialized biological products, ensuring that NPC1L1 gene knockout cell lines are produced with the highest standards of quality and functionality to meet the rigorous demands of scientific research.
Please note that all services are for research use only. Not intended for any clinical use.
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