Glutamate dehydrogenase 1

Glutamate dehydrogenase 1 (GLUD1) is an enzyme that in humans is encoded by the GLUD1 gene. This enzyme is found in the mitochondria, where it plays a crucial role in amino acid metabolism.

Function

Glutamate dehydrogenase 1 is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This reaction is a key step in amino acid catabolism and a major contributor to the conversion of amino acids into energy.

Structure

The GLUD1 enzyme is a hexamer composed of identical subunits. Each subunit consists of an N-terminal domain, a central domain, and a C-terminal domain. The active site of the enzyme is located in the central domain, while the N-terminal domain is involved in subunit interactions.

Clinical significance

Mutations in the GLUD1 gene have been associated with hyperinsulinism/hyperammonemia syndrome, a disorder characterized by hypoglycemia and elevated levels of ammonia in the blood. In addition, some studies suggest that alterations in the activity of this enzyme may contribute to the pathogenesis of neurodegenerative diseases such as Alzheimer's disease and Huntington's disease.

See also

• Glutamate dehydrogenase
• Hyperinsulinism/hyperammonemia syndrome
• Neurodegenerative diseases