Recombinant human ketohexokinase is produced using E. coli expression systems. The recombinant protein is typically purified to a high degree of purity (>95%) and is used in various biochemical assays to study its activity and properties . The recombinant form is often tagged with a 6-His tag for ease of purification and detection .
Mutations in the KHK gene can lead to a condition known as essential fructosuria, a benign disorder characterized by the incomplete metabolism of fructose in the liver, leading to its excretion in urine . This condition is caused by a deficiency in the hepatic isoform KHK-C, while the peripheral isoform KHK-A remains functional .
Recombinant human ketohexokinase is used extensively in research to understand the enzyme’s role in fructose metabolism and its implications in metabolic disorders. Studies have shown that KHK activity is highest in the liver, followed by the renal cortex and small intestine . In insulin-deficient states, a modest level of fructose metabolism through fructose-1-phosphate is preserved, even when peripheral glucose utilization is significantly depressed .