GSG2
Gsg2: A Comprehensive Overview
Description
Gsg2, also known as glutathione synthetase 2, is an enzyme that plays a crucial role in the body's production of glutathione (GSH). GSH is a powerful antioxidant that protects cells from damage caused by free radicals and other toxins. Gsg2 catalyzes the final step in the GSH synthesis pathway, converting γ-glutamylcysteine (γ-GC) and glycine into GSH.
Associated Diseases
Mutations in the GSG2 gene have been linked to several diseases, including:
- Glutathione synthetase deficiency (GSD): GSD is a rare genetic disorder caused by mutations in the GSG2 gene. It results in the body's inability to produce sufficient GSH, leading to a weakened immune system, increased susceptibility to infections, and other health problems.
- Neurodegenerative diseases: Gsg2 dysfunction has been implicated in the development of neurodegenerative diseases such as Alzheimer's and Parkinson's. These diseases are characterized by the accumulation of toxic proteins in the brain, which can be prevented by adequate levels of GSH.
- Cancer: GSH is essential for cell growth and proliferation. Dysregulation of GSG2 can lead to abnormal cell proliferation and contribute to the development of cancer.
Did you Know ?
According to the National Institutes of Health (NIH), glutathione synthetase deficiency affects approximately 1 in 50,000 individuals worldwide.