Description
Key facts
Cell type:HeLa,
Species or organism:Human,
Tissue:Cervix,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, 1 bp insertion in exon 24 and 2 bp deletion in exon 24 and 4 bp deletion in exon 24,
Disease:Adenocarcinoma
Product details:
We will provide viable cells that proliferate on revival.
This product is subject to limited use licenses from The Broad Institute, ERS Genomics Limited and Sigma-Aldrich Co. LLC, and is developed with patented technology. For full details of the licenses and patents please refer to our
limited use license
patent pages
Properties and Storage Information:
Gene name-COL4A6, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--196°C, Appropriate long-term storage conditions--196°C
Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
Collagen IV alpha 6 also known as COL4A6 forms a part of the collagen IV family. This protein acts as a structural component in the basement membrane playing a role in maintaining the integrity and stability of these membranes. Weighing about 160 kDa COL4A6 is expressed in a variety of tissues such as the kidney lung and testis. The local expression in these tissues suggests its key role in supporting organ-specific structures.
Biological function summary
As part of the collagen IV network COL4A6 contributes to the formation of the heterotrimeric type IV collagen molecules. These trimers are composed of three alpha chains that associate to form a complex structure necessary for providing mechanical support and filtration functions in the basement membrane. The involvement of COL4A6 in these processes highlights its important role in tissue morphogenesis and maintenance.
Pathways
The function of COL4A6 integrates into major signaling cascades like the integrin-mediated signaling pathway and the extracellular matrix (ECM) remodeling pathway. Within these pathways COL4A6 collaborates with other collagen IV proteins such as COL4A1 and COL4A5 to interact with integrins. These interactions are critical for signal transduction processes that regulate cell adhesion migration and differentiation thereby maintaining tissue architecture.
Mutations or alterations in COL4A6 are linked to Alport syndrome and some forms of nephropathy. In Alport syndrome there is a direct connection with COL4A5 another collagen IV family member which often coexists with COL4A6 in forming critical basement membrane structures. Dysfunction in these proteins leads to compromised membrane stability and filtration resulting in the characteristic symptoms of kidney disease and hearing loss seen in affected individuals.
