USMG5
USMG5 (also known as ATP synthase membrane subunit DAPIT) is a protein that in humans is encoded by the USMG5 gene. It is a component of the ATP synthase complex, which is responsible for the production of ATP, the main source of energy in cells.
Function[edit | edit source]
The USMG5 protein is a part of the ATP synthase complex, which is located in the mitochondria of cells. This complex is responsible for the production of adenosine triphosphate (ATP), the main source of energy in cells. The USMG5 protein is thought to play a role in the assembly or stability of the ATP synthase complex.
Clinical significance[edit | edit source]
Mutations in the USMG5 gene have been associated with mitochondrial diseases, including Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and Leigh syndrome. These diseases are characterized by a wide range of symptoms, including muscle weakness, neurological problems, and lactic acidosis.
Research[edit | edit source]
Research into the USMG5 gene and its associated protein is ongoing. Studies have suggested that the USMG5 protein may play a role in the regulation of ATP production, and that mutations in the USMG5 gene may contribute to the development of mitochondrial diseases.
See also[edit | edit source]
- ATP synthase
- Mitochondrial disease
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
- Leigh syndrome
References[edit | edit source]
External links[edit | edit source]
- USMG5 at the National Center for Biotechnology Information
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Contributors: Prab R. Tumpati, MD