Gene: SLC19A3
Official Full Name: solute carrier family 19 member 3provided by HGNC
Gene Summary: This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]
Catalog Number | Product Name | Species | Gene | Passage ratio | Mycoplasma testing | Price |
---|---|---|---|---|---|---|
KO25973 | SLC19A3 Knockout cell line (HEK293) | Human | SLC19A3 | 1:3~1:6 | Negative | Online Inquiry |
KO25974 | SLC19A3 Knockout cell line (A549) | Human | SLC19A3 | 1:3~1:4 | Negative | Online Inquiry |
SLC19A3 Gene Knockout Cell Lines are highly specialized cellular models engineered to facilitate research on the SLC19A3 gene, which encodes for a key protein involved in thiamine transport and metabolism. The knockout of this gene allows researchers to investigate the functional consequences of its absence, particularly in relation to cellular energy metabolism and biochemical pathways dependent on thiamine. These cell lines are produced using advanced CRISPR-Cas9 gene editing techniques, ensuring precise deletion of the SLC19A3 gene while providing a reliable platform for downstream analyses.
Functionally, SLC19A3 Gene Knockout Cell Lines present an invaluable tool for elucidating the role of thiamine in cellular health, including its contributions to oxidative stress response, neuroprotection, and overall cellular homeostasis. By studying these knockout lines, researchers can gain insights into the pathogenesis of disorders associated with thiamine deficiency, such as Wernicke-Korsakoff syndrome and other metabolic diseases.
The scientific importance of these cell lines extends beyond basic research; they are instrumental in preclinical drug testing and therapeutic investigations aimed at restoring normal thiamine function or compensating for its absence. Compared to traditional knockdown models, knockout cell lines provide a more definitive loss-of-function approach, minimizing off-target effects and allowing for clearer interpretation of results.
Key advantages of SLC19A3 Gene Knockout Cell Lines lie in their high specificity, reproducibility, and compatibility with a range of assay techniques, including metabolic profiling, gene expression studies, and drug response assessments. These attributes make them a preferred choice for both researchers and clinicians seeking to deepen their understanding of thiamine-related pathways and their implications in health and disease.
For researchers, the ability to manipulate the SLC19A3 gene effectively enhances experimental rigor and provides a stable platform to test hypotheses in translational studies. Clinicians can leverage findings from these models to inform patient care, particularly in conditions linked to thiamine metabolism.
Our company is committed to providing cutting-edge biological products supported by a strong foundation in molecular biology. With a focus on innovation and quality, we ensure that our SLC19A3 Gene Knockout Cell Lines are well-characterized and ready to support your research endeavors.
Please note that all services are for research use only. Not intended for any clinical use.
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