Abcam, ab258986, Human NANS knockout HEK-293T cell lysate

Size: 1Kit
NANS KO cell lysate available now. KO validated by. Free of charge wild type control included. Knockout achieved by using CRISPR/Cas9, Homozygous: 1 bp insertion in exon 1.
Key facts
Cell type:HEK-293T,
Species or organism:Human,
Tissue:Kidney,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, Homozygous: 1 bp insertion in exon 1.

Product details:
Knockout cell lysate achieved by CRISPR/Cas9.
REACH authorisation
Abcam has not and does not intend to apply for the REACH Authorisation of customers' uses of products that contain European Authorisation list (Annex XIV) substances.
It is the responsibility of our customers to check the necessity of application of REACH Authorisation, and any other relevant authorisations, for their intended uses.
Lysate preparation:
Our lysates are made using RIPA buffer to which we add a protease inhibitor cocktail and phosphatase inhibitor cocktail (ratio: 300:100:10).
This means that the protein of interest is denatured.
If you require a native form of the protein please use the live cell version. Please refer to our lysis protocol for further details on how our lysates are prepared.
User storage instructions:
Lyophilizate may be stored at 4°C. After reconstitution, store at -20°C for short-term storage or -80°C for long-term storage.
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-NANS, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Zygosity-Homozygous, Shipped at conditions-Ambient - Can Ship with Ice, Appropriate short-term storage conditions--20°C, Appropriate long-term storage conditions--20°C

Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
N-acetylneuraminate synthase commonly known as NANS catalyzes the formation of N-acetylneuraminic acid (Neu5Ac) from N-acetyl-D-mannosamine 6-phosphate and phosphoenolpyruvate. This process is important in the sialic acid biosynthesis pathway. NANS has a molecular weight of approximately 46 kDa and is expressed in various tissues most abundantly in the liver and brain. These tissues show significant metabolic activity suggesting the enzyme's active involvement in cellular processes.
Biological function summary
This enzyme plays a significant role in the synthesis of sialic acids which are essential components of glycoconjugates such as glycoproteins and glycolipids. NANS is not known to associate with any specific large protein complexes but its action is necessary for generating substrates that contribute to protein glycosylation and the modification of lipids. These modifications influence cell-cell communication neurite outgrowth and immune response modulation.
Pathways
This enzyme is pivotal in the sialic acid biosynthesis pathway impacting the production of glycoproteins and glycolipids. In this context NANS interacts with key enzymes like sialyltransferases which further transfer sialic acids to the proteins and lipids. This pathway is essential in glycobiology affecting cellular interactions and signal transduction processes.
Mutations in the NANS gene have been linked to developmental delay syndromes especially NANS deficiency. These symptoms appear due to disrupted sialic acid production leading to abnormal glycosylation patterns. Furthermore the alteration in NANS activity indirectly affects proteins such as integrins and selectins contributing to immune deficiencies and metabolic syndromes.