AGXT2

AGXT2 is a gene that provides instructions for making an enzyme called alanine-glyoxylate aminotransferase 2. This enzyme is found in the mitochondria, the energy-producing centers within cells. It is involved in the breakdown of several different substances, including a compound called glyoxylate.

Function

The AGXT2 enzyme plays a crucial role in the metabolism of amino acids, the building blocks of proteins. Specifically, it helps break down an amino acid called alanine. During this process, the enzyme converts a molecule of glyoxylate to a molecule of glycine, another amino acid. The AGXT2 enzyme also helps break down a compound called beta-aminoisobutyrate, which is produced during the breakdown of a molecule called thymine, one of the building blocks of DNA.

Clinical significance

Mutations in the AGXT2 gene have been associated with a variety of health conditions. For example, some studies have suggested a link between AGXT2 mutations and an increased risk of kidney stones. Other research has indicated that AGXT2 mutations may be associated with certain types of heart disease, although this link is not yet fully understood.

Research

Research into the AGXT2 gene and its associated enzyme is ongoing. Scientists are particularly interested in understanding how mutations in this gene may contribute to disease. This research could lead to new treatments for conditions associated with AGXT2 mutations.

See also

• Genetics
• Metabolism
• Mitochondria
• Amino acid
• Kidney stones
• Heart disease