Gene: COL6A3
Official Full Name: collagen type VI alpha 3 chainprovided by HGNC
Gene Summary: This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]
Catalog Number | Product Name | Species | Gene | Passage ratio | Mycoplasma testing | Price |
---|---|---|---|---|---|---|
KO10397 | COL6A3 Knockout cell line (HeLa) | Human | COL6A3 | 1:3~1:6 | Negative | Online Inquiry |
COL6A3 Gene Knockout Cell Lines are innovative biological tools specifically designed for the study of collagen type VI alpha 3 (COL6A3) functions in various physiological and pathological contexts. These genetically modified cell lines are created by utilizing CRISPR/Cas9 technology to knock out the COL6A3 gene, allowing researchers to examine the role of this essential extracellular matrix protein in cell behavior and tissue integrity.
The primary function of COL6A3 is to contribute to the structural framework of tissues through its role in the assembly of collagen VI networks. By knocking out this gene, the resultant cell lines provide a unique platform for investigating alterations in cellular adhesion, migration, and signaling pathways that depend on the extracellular matrix. This functional analysis is crucial for understanding how deficiencies in COL6A3 can lead to diseases such as muscular dystrophies, where the structural integrity of muscle tissue becomes compromised.
Scientifically, COL6A3 gene knockout cell lines hold immense importance in both research and clinical settings. They can be employed in the investigation of tissue repair mechanisms, development of novel therapeutic strategies, and the screening of pharmacological agents that target extracellular matrix interactions. Furthermore, these knockout models pave the way for potential applications in regenerative medicine and gene therapy, particularly in conditions associated with defective collagen formation.
Compared to other gene-editing or cell line options, the COL6A3 gene knockout cell lines offer distinct advantages, including precise genetic modification, reproducibility of results, and enhanced specificity in modeling diseases linked to collagen dysfunction. Unlike conventional techniques, the CRISPR-mediated approach ensures a higher efficiency in gene disruption.
This product is invaluable to researchers and clinicians aiming to delve deeper into the role of collagen VI in human health and disease. By providing a robust model for studying the effects of COL6A3 depletion, our knockout cell lines empower users to generate novel insights that could lead to breakthroughs in treatment strategies.
We at [Your Company Name] are committed to advancing biomedical research through innovative solutions such as the COL6A3 Gene Knockout Cell Lines. Our extensive expertise in genetic engineering and cell biology enables us to deliver high-quality products tailored to the evolving needs of the scientific community.
Please note that all services are for research use only. Not intended for any clinical use.
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