AGXT : alanine--glyoxylate aminotransferase
Description
The AGXT gene, located on chromosome 10, encodes the enzyme alanine:glyoxylate aminotransferase (AGT). AGT is crucial for the detoxification of glyoxylate, a toxic byproduct of various metabolic pathways. It catalyzes the conversion of glyoxylate to glycine, preventing its accumulation and ensuring proper metabolic function. Mutations in the AGXT gene can lead to hyperoxaluria type 1, a rare genetic disorder characterized by excessive oxalate production, leading to kidney stones and kidney failure. Understanding the AGXT gene and its role in glyoxylate metabolism is vital for developing effective therapies and management strategies for hyperoxaluria type 1.
Associated Diseases
Did you know?
The AGXT gene is highly conserved across species, suggesting its essential role in metabolic processes.
