Lgammaa1

Lgammaa1 is a gene located on chromosome 19 in humans. It encodes for the enzyme gamma-glutamyltransferase (GGT), which is a member of the gamma-glutamyltransferase family. GGT is primarily found in the liver and plays a crucial role in the metabolism of amino acids and the detoxification of ammonia. It catalyzes the transfer of the gamma-glutamyl group from gamma-glutamyl compounds to various acceptors, such as glycine or peptides, resulting in the formation of glutamyl compounds and the corresponding acceptor.

Mutations in the Lgammaa1 gene have been associated with various medical conditions. For instance, a deficiency in GGT activity can lead to type I glycogen storage disease, a rare metabolic disorder characterized by the accumulation of glycogen in the liver and other tissues. Additionally, certain variants of the Lgammaa1 gene have been linked to an increased risk of developing liver diseases, such as non-alcoholic fatty liver disease and primary biliary cholangitis.

The Lgammaa1 gene is also a target for genetic studies in populations with different ethnic backgrounds, as genetic variations in this gene can influence the risk of developing certain diseases. Research on the Lgammaa1 gene continues to provide valuable insights into the molecular mechanisms underlying amino acid metabolism and liver function.