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, Homozygous: 1 bp insertion in exon 25,
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-COL4A1, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Zygosity-Homozygous, 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 1 also known as COL4A1 forms an essential component of type IV collagen a major structural protein in basement membranes. With a molecular mass of approximately 185 kDa it contributes significantly to the formation of the structural matrix that supports epithelial and endothelial cells. Expression of COL4A1 is widespread notably in tissues with high involvement of basement membranes such as kidneys the eye and the cerebral vasculature. It takes part in the assembly of the collagen IV network essential for a stable extracellular environment.
Biological function summary
Collagen type IV alpha 1 contributes to the structural integrity and mechanical stability of the basement membrane. It operates as part of a heterotrimeric complex alongside COL4A2 integrating into the basement membrane's unique mesh-like structure. This arrangement is important for the maintenance of cell attachment movement and the filtration barrier in tissues like the glomeruli. This protein also facilitates separations between tissue compartments helping organize cell layers into functional units.
Pathways
The collagen type IV alpha 1 protein participates in the integrin signaling pathway and the matrix metalloproteinase (MMP) pathway. It interacts with other collagen forms and proteins such as integrins involved in signaling events that regulate cell survival proliferation and migration. Its involvement in the MMP pathway highlights its role in tissue remodeling and repair as MMPs modulate the extracellular environment including basement membrane degradation and reconstruction.
Mutations or abnormalities in collagen type IV alpha 1 relate to conditions like cerebral small vessel disease (SVD) and Alport syndrome. SVD is associated with compromised vascular integrity where COL4A1 mutations may disrupt normal blood vessel function. In Alport syndrome disruptions in type IV collagen may lead to progressive kidney disease due to the protein's vital role in glomerular basement membrane structure. Furthermore COL4A1's interaction with proteins like COL4A5 highlights its broader impact in these disorders as COL4A5 mutations are a known cause of Alport syndrome.
