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

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

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

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

• Mitochondrial disease
• Mitochondrial DNA
• Aminoacyl tRNA synthetase

References

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