Human GALT Knockout Cell Line-HEK293T

The GALT gene, also known as galactose-1-phosphate uridyltransferase, is essential for human metabolism. Galactose-1-phosphate uridyltransferase catalyzes a step in the metabolic pathway that breaks down galactose into glucose and other molecules that the body can use. Specifically, the enzyme converts galactose-1-phosphate into glucose-1-phosphate. The resulting glucose is the main energy source for cells. In addition, the process produces UDP-galactose, an essential molecule for the production of galactose-containing proteins and fats. These modified proteins and fats play an integral role in cell communication, structural integrity, molecular transport, and energy production.

Alterations or mutations in the GALT gene are associated with a metabolic disorder known as classic galactosemia. To date, more than 300 GALT gene mutations have been identified in individuals with classic galactosemia. The disorder appears shortly after birth and presents life-threatening symptoms due to the body's inability to process galactose effectively. This mutation often severely reduces or eliminates the activity of the galactose-1-phosphate uridyltransferase, leading to a toxic buildup of galactose-1-phosphate and related compounds in the body that damages tissues and organs.