Description

The AGXT gene encodes an enzyme called alanine-glyoxylate aminotransferase. This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes. These structures are important for several cellular activities, such as ridding the cell of toxic substances and helping to break down certain fats. In the peroxisome, alanine-glyoxylate aminotransferase converts a compound called glyoxylate to the amino acid glycine. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria (Lumb and Danpure, 2000).

External Information

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