Description
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, 14 bp deletion in exon 1 and 1 bp insertion in exon 1
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-DEGS1, 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.
MLD also known as Metachromatic Leukodystrophy protein is an enzyme of significant importance in cellular function. This protein has a molecular mass of around 50 kDa. It is primarily expressed in the brain but is also found in peripheral tissues. MLD breaks down sulfatides which are important components of myelin sheaths. The myelin sheaths encapsulate nerve cells and are essential for efficient nerve signal transmission.
Biological function summary
Metachromatic Leukodystrophy protein plays an important role in the maintenance of the nervous system structure and function. It is involved in the degradation of certain lipid compounds to prevent toxic accumulation. When the function of the MLD protein is impaired sulfatides accumulate leading to cellular damage and functional deficits. MLD does not generally function as part of a larger complex; instead it acts independently within its cellular environment.
Pathways
Metachromatic Leukodystrophy protein is integral to the sphingolipid degradation pathway. This pathway includes the catabolism of complex lipid molecules preventing harmful buildup within cells. Another enzyme arylsulfatase A closely interacts with the MLD protein and participates in the same pathway further demonstrating its importance in managing cellular lipids and maintaining cell health.
Metachromatic Leukodystrophy protein is directly related to Metachromatic Leukodystrophy a genetic disorder affecting the nervous system. This disease results from mutations in the gene that encodes for the MLD protein leading to demyelination and neurological decline. Other proteins like cerebroside sulfate become dysregulated in this disorder indicating a complex network of biomolecular interactions disrupted when MLD function is compromised.
