AGXT2
AGXT2: A Gene with a Role in Mitochondrial Function
Description:
AGXT2 (alanine-glyoxylate aminotransferase 2) is a gene that encodes an enzyme involved in the metabolism of amino acids and the production of energy in the mitochondria, the powerhouses of our cells. The AGXT2 enzyme specifically catalyzes the conversion of alanine to glyoxylate and pyruvate.
Associated Diseases:
Mutations in the AGXT2 gene have been linked to a number of rare inherited disorders, including:
- Primary hyperoxaluria type 1 (PH1): A condition characterized by the overproduction of oxalate, a waste product that can form kidney stones and cause kidney damage.
- Neonatal intrahepatic cholestasis caused by citrin deficiency: A liver disease that affects newborns and infants.
Did you Know ?
The incidence of primary hyperoxaluria type 1 (PH1) due to mutations in AGXT2 is estimated to be around 1 in 100,000 to 1 in 200,000 worldwide.
