Glutamate formiminotransferase

Glutamate formiminotransferase is an enzyme that plays a crucial role in amino acid metabolism, specifically in the processing of formiminoglutamate (FIGLU), a derivative of the amino acid histidine. This enzyme catalyzes the transfer of a formimino group from formiminoglutamate to tetrahydrofolate (THF), producing glutamate and 5-formiminotetrahydrofolate in the process. This reaction is an important step in the catabolism of histidine and is essential for the synthesis of purines and thymidylate, which are critical for DNA synthesis and repair.

Function

Glutamate formiminotransferase is involved in the one-carbon metabolism pathway, which is crucial for DNA synthesis and repair. The enzyme facilitates the conversion of formiminoglutamate, a metabolite of histidine degradation, into glutamate and 5-formiminotetrahydrofolate. The latter is a form of folate that participates in the synthesis of purines and thymidylate, essential components of DNA. Therefore, glutamate formiminotransferase plays a vital role in maintaining the integrity of genetic material and proper cell function.

Clinical Significance

Abnormalities in the activity of glutamate formiminotransferase can lead to metabolic disorders, including megaloblastic anemia and homocystinuria. These conditions are often associated with deficiencies in folate metabolism and can result in a variety of symptoms, including fatigue, weakness, neurological disorders, and increased risk of cardiovascular diseases. Understanding the function and regulation of this enzyme is crucial for the diagnosis and treatment of these metabolic disorders.

Genetic Information

The gene encoding glutamate formiminotransferase is located on a specific chromosome (the exact location can vary among species). Mutations in this gene can affect the enzyme's activity, leading to metabolic imbalances and disease. Research into the genetic regulation of glutamate formiminotransferase is ongoing, with the goal of developing targeted therapies for conditions resulting from its deficiency or malfunction.

See Also

• Amino acid metabolism
• Enzyme
• Histidine
• Tetrahydrofolate
• DNA synthesis