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, 1 bp deletion in exon 1 and 2 bp insertion in exon 1,
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-GALK1, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, 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.
GALK1 also known as galactokinase 1 is an enzyme with a molecular mass of approximately 42 kDa. It catalyzes the phosphorylation of galactose to galactose-1-phosphate an important first step in galactose metabolism. GALK1 is expressed mainly in the liver kidney and brain where it plays a critical role in processing galactose derived from the diet. Its activity ensures the proper utilization of galactose for energy production and biosynthetic processes.
Biological function summary
The phosphorylation by GALK1 initiates the Leloir pathway facilitating efficient galactose metabolism. GALK1 does not form part of a larger protein complex but acts independently to enable the conversion of galactose to intermediates useful in glycolysis and glycogenesis. By doing so it supports normal cellular functions and contributes to the maintenance of cellular energy balance.
Pathways
GALK1 functions at the beginning of the Leloir pathway critical for galactose processing. This pathway includes the conversion of galactose-1-phosphate to glucose-1-phosphate a reaction controlled by related enzymes like GALT (galactose-1-phosphate uridylyltransferase). GALK1's activity is interconnected with glucose metabolism bridging galactose and glucose metabolic pathways ensuring galactose can be converted for energy production or storage.
Mutations in GALK1 can lead to galactokinase deficiency which causes galactosemia type II. This condition results in the accumulation of galactitol leading to cataracts development in early childhood. Galactokinase deficiency can also disturb normal carbohydrate metabolism indirectly affecting other proteins such as GALT. Understanding GALK1's function and genetic variants helps in diagnosing and managing galactosemia and its related complications.
