Description
Key facts
Cell type:HeLa,
Species or organism:Human,
Tissue:Cervix,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,Western blot,
Mutation description:Knockout achieved by using CRISPR/Cas9, 11 bp deletion in exon 5 and 1 bp insertion in exon 5,
Antibiotic resistance:Puromycin 1µg/mL,
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-CBSL, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Western blot, 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.
Cystathionine beta-synthase (CBS) is an enzyme that catalyzes the conversion of homocysteine and serine into cystathionine. It is sometimes referred to as CBS monelyne or cystathionine synthase. CBS is a heme-containing protein with a molecular mass of approximately 63 kDa. It is expressed widely in tissues including the liver brain and kidney. The activity of CBS is regulated by various factors including the availability of cofactors like pyridoxal 5'-phosphate and adenosine triphosphate (ATP).
Biological function summary
The enzyme CBS plays a role in the transsulfuration pathway where it helps in the metabolism of homocysteine. CBS is a part of a larger complex in some tissues where it interacts with other enzymes involved in sulfur amino acid metabolism. This function is important in maintaining cellular sulfur amino acid balance and protecting cells from oxidative stress caused by elevated levels of homocysteine.
Pathways
CBS functions in the transsulfuration pathway which connects the methionine cycle and the synthesis of glutathione. This pathway is essential for detoxification and antioxidant protection. CBS interrelates with other proteins like cystathionine gamma-lyase (CGL) within this pathway. The interplay between CBS and CGL ensures the conversion of homocysteine to cysteine which is a precursor for the synthesis of glutathione.
CBS deficiency is linked to homocystinuria a disorder characterized by high levels of homocysteine in the blood and urine. Symptoms include cardiovascular problems and developmental delays. Furthermore alterations in CBS activity relate to cardiovascular diseases due to hyperhomocysteinemia. Within these conditions CBS interacts with other proteins involved in homocysteine metabolism such as methionine synthase which also contributes to the complexity of these disorders.
