Abcam, ab266682, Human NSDHL knockout HEK-293T cell line

Size: 2 x 1000000Cells / vial / 1000000Cells / vial
NSDHL KO cell line available to order. KO validated by Western blot. Free of charge wild type control available. Knockout achieved by using CRISPR/Cas9, Homozygous: 1 bp deletion in exon 4. To order both knockout and wild-type control cells: select 2 x 1000000Cells/vial. To order only knockout cells: select 1000000Cells/vial.
Key facts
Cell type:HEK-293T,
Species or organism:Human,
Tissue:Kidney,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,Western blot,
Mutation description:Knockout achieved by using CRISPR/Cas9, Homozygous: 1 bp deletion in exon 4

Product details:
We will provide viable cells that proliferate on revival.
This product is subject to limited use licenses from The Broad Institute and ERS Genomics Limited, and is developed with patented technology. For full details of the limited use licenses and relevant patents please refer to our
limited use license
patent pages

Properties and Storage Information:
Gene name-NSDHL, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Western blot, 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.
NSDHL also known as NAD(P)H steroid dehydrogenase-like is an enzyme linked to the cholesterol biosynthesis pathway. It has a molecular weight of approximately 41 kDa. This enzyme localizes to the endoplasmic reticulum membrane and the peroxisomes. NSDHL shows expression in various tissues with higher levels in the liver adrenal glands and the brain. This distribution highlights its essential role in metabolic processes across different tissue types.
Biological function summary
NSDHL facilitates the removal of one hydrogen from NAD(P)H and adds it to the steroid precursor lathosterol an important intermediate in cholesterol biosynthesis. Although not part of a larger complex NSDHL performs significant enzymatic steps necessary for converting sterol intermediates. Its activity directly influences sterol composition vital for cell membrane integrity signaling and hormone synthesis.
Pathways
The enzyme plays a critical role in the cholesterol biosynthesis pathway specifically affecting the conversion of lanosterol into cholesterol. NSDHL operates in tandem with other enzymes like DHCR7 influencing the downstream process of sterol maturation. The precise coordination of these enzymes ensures effective cholesterol production essential for maintaining cellular cholesterol levels and systemic lipid homeostasis.
Malfunctions in NSDHL can lead to disorders like CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects) and CK syndrome (Conradi-Hünermann-Happle syndrome). These conditions link to cholesterol biosynthesis disruption impacting skin and skeletal development. NSDHL interacts with the EBP protein in these pathways suggesting a relationship between enzyme activity and phenotypic expression in these disorders. Understanding NSDHL's function and regulation is key to recognizing its involvement in metabolic syndromes and potential therapeutic targets.