ARG1 (gene)

ARG1 (Arginase 1) is a gene that encodes the enzyme arginase in humans. This enzyme plays a crucial role in the urea cycle, which is involved in the detoxification of ammonia and the production of urea in the liver. Mutations in the ARG1 gene can lead to arginase deficiency, a rare autosomal recessive disorder.

Structure

The ARG1 gene is located on the long (q) arm of chromosome 6 at position 23. It spans about 8.5 kilobases and consists of 8 exons. The encoded protein, arginase 1, is a trimeric metallo-enzyme that contains two manganese ions per subunit.

Function

Arginase 1, the enzyme encoded by the ARG1 gene, is a key enzyme in the urea cycle. It catalyzes the hydrolysis of arginine to ornithine and urea. This is the final step in the urea cycle and is essential for the body to get rid of excess nitrogen.

Clinical significance

Mutations in the ARG1 gene can cause arginase deficiency, also known as hyperargininemia. This is a rare autosomal recessive disorder characterized by a buildup of arginine and ammonia in the blood. Symptoms can include neurological impairment, spasticity, and growth retardation.

See also

• Urea cycle
• Arginase
• Hyperargininemia