VARS2
VARS2 is a gene that encodes the mitochondrial valyl-tRNA synthetase protein in humans. This protein is a part of the aminoacyl-tRNA synthetase complex, which plays a crucial role in protein synthesis within the mitochondria.
Function[edit | edit source]
The VARS2 gene provides instructions for making an enzyme called valyl-tRNA synthetase 2. This enzyme is found in mitochondria, the energy-producing centers within cells. It is involved in the process of translation, the assembly of amino acids into functioning proteins following the instructions encoded in DNA.
Clinical significance[edit | edit source]
Mutations in the VARS2 gene have been associated with various mitochondrial disorders, including Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). These conditions often involve muscle weakness and pain, seizures, and developmental delay.
Research[edit | edit source]
Research into the VARS2 gene and its associated proteins is ongoing, with a focus on understanding the mechanisms of mitochondrial diseases and potential therapeutic targets.
See also[edit | edit source]
References[edit | edit source]
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