GLUL
Description
The GLUL gene provides instructions for making glutamine synthetase, an enzyme that plays a crucial role in the synthesis of glutamine, a non-essential amino acid. Glutamine is essential for various cellular processes, including protein synthesis, energy production, and neurotransmitter production. The enzyme catalyzes the conversion of glutamate and ammonia into glutamine, a process that is vital for the detoxification of ammonia in the body.
Associated Diseases
- Hyperammonemia type I: A genetic disorder characterized by an inability to convert ammonia into glutamine, leading to a buildup of ammonia in the blood.
- Episodic ataxia type 2: This neurological disorder causes episodes of involuntary muscle movements and tremors.
- Canavan disease: A rare neurological disorder affecting the brain‘s development, leading to severe neurological impairments.
- Other neurological disorders: Studies suggest that GLUL gene variants might be associated with other neurological disorders, such as autism spectrum disorder and schizophrenia.
Did you know?
The GLUL gene is found on chromosome 14, which is one of the larger chromosomes in the human genome. It contains about 100 million base pairs, representing approximately 3% of the total DNA in a human cell.
