PET117
PET117 is a gene that encodes a protein in humans. This protein is a component of the mitochondrial ribosome, which is responsible for protein synthesis within the mitochondrion. The encoded protein is involved in the process of mitochondrial translation, which is essential for the production of proteins required for the respiration and energy production within cells.
Function[edit | edit source]
The PET117 gene provides instructions for making a protein that is found in mitochondria, the energy-producing centers within cells. This protein is a component of the mitochondrial ribosome, which is responsible for the production of proteins that are involved in the process of respiration and energy production.
Clinical significance[edit | edit source]
Mutations in the PET117 gene have been associated with mitochondrial disease, a group of disorders caused by dysfunctional mitochondria. These diseases can affect any part of the body and can cause a wide range of symptoms, including muscle weakness, neurological problems, cardiac disease, and liver disease.
Research[edit | edit source]
Research into the PET117 gene and its associated protein is ongoing, with scientists aiming to better understand its role in mitochondrial function and its potential involvement in disease. This research could lead to new treatments for mitochondrial diseases and other conditions associated with mitochondrial dysfunction.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD