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 3,
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-DHCR7, 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.
7-dehydrocholesterol reductase (DHCR7) is an enzyme that plays an important role in cholesterol biosynthesis. It catalyzes the conversion of 7-dehydrocholesterol (7-DHC) to cholesterol in the final step of the process. DHCR7 is also known by the name sterol Δ7-reductase. The enzyme has a molecular mass of approximately 54 kDa. Expression of DHCR7 is prominent in tissues that require active cholesterol synthesis such as the liver adrenal glands and brain.
Biological function summary
DHCR7 activity ensures the maintenance of cholesterol homeostasis in cells. The enzyme operates independently and does not form part of a larger complex focusing directly on the reduction of the double bond in the C7-8 position of 7-DHC to yield cholesterol. By regulating cholesterol levels DHCR7 supports membrane fluidity and integrity contributing to the proper function of cellular structures.
Pathways
DHCR7 is an important component of the cholesterol biosynthesis pathway which is part of the larger sterol metabolic pathway. Its function is linked with other enzymes such as 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) highlighting their roles in sequential steps that convert squalene into cholesterol. These interactions highlight the interdependence of DHCR7 with other sterol-processing proteins influencing both cholesterol production and regulation within the body.
DHCR7 mutations can cause conditions such as Smith-Lemli-Opitz syndrome a congenital disorder characterized by multiple physical and developmental abnormalities. This condition connects DHCR7 to defective cholesterol metabolism and accumulation of toxic 7-DHC levels. Additionally the involvement of DHCR7 in cholesterol homeostasis ties it with potential dyslipidemias where abnormal lipid levels may influence cardiovascular health. Changes in DHCR7 function can lead to disruptions in normal cholesterol synthesis impacting related proteins and enzymatic pathways.
