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 deletion in exon 29 and 2 bp insertion in exon 29,
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-COL4A4, 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.
The Collagen alpha-4(IV) chain often referred to as COL4A4 is a component of type IV collagen. This protein plays a mechanical role by forming a network in the basement membranes which are thin sheets of specialized extracellular matrix materials. It possesses a significant molecular mass of approximately 185 kDa. COL4A4 is mainly expressed in tissues such as the kidney cochlea and ocular structures where it integrates with other collagen chains to provide structural support and stability.
Biological function summary
The Collagen alpha-4(IV) chain contributes to the integrity and function of basement membranes. It forms a heterotrimeric complex with other alpha chains specifically with COL4A3 and COL4A5 which together are essential for maintaining the filtration barrier in the glomeruli of kidneys. This complex also plays roles in hearing and maintaining visual function. The structural rigidity and filtration properties provided by these collagen chains are vital for the proper functioning of these tissues.
Pathways
The Collagen alpha-4(IV) chain is significantly involved in the basement membrane organization pathway. It interacts closely with other collagens and cell surface receptors to mediate cell adhesion migration and signaling processes. Within the same pathway proteins such as laminins and integrins work similarly to ensure the stability and communication between cells and the extracellular matrix. Through these interactions the COL4A4 chain ensures proper tissue organization and cellular responses to environmental changes.
COL4A4 mutations relate to Alport syndrome and thin basement membrane nephropathy. Alport syndrome is a genetic disorder characterized by kidney disease hearing loss and ocular abnormalities resulting from defects in the collagen type IV structure. In this context the COL4A4 chain interacts with COL4A3 and COL4A5 and mutations in any of these chains disrupt the collagen network causing the disease symptoms. Understanding these associations aids in diagnosing and devising potential therapeutic strategies for these disorders.
