FARS2

FARS2 (Phenylalanyl-tRNA Synthetase 2, Mitochondrial) is a protein that in humans is encoded by the FARS2 gene. This protein is a member of the class II family of aminoacyl-tRNA synthetases. The encoded protein is a mitochondrial protein that specifically aminoacylates phenylalanyl-tRNA.

Function

The FARS2 gene provides instructions for making an enzyme called phenylalanyl-tRNA synthetase. This enzyme is found in mitochondria, the energy-producing centers within cells. The enzyme's role is to attach a molecule called phenylalanine to a molecule called tRNA. This process is essential for the production of proteins within mitochondria.

Clinical significance

Mutations in the FARS2 gene have been associated with mitochondrial disease, specifically, a condition known as FARS2-related mitochondrial disease. This condition is characterized by a variety of symptoms, including developmental delay, seizures, and a failure to thrive. The severity and range of symptoms can vary widely among affected individuals.

Genetics

The FARS2 gene is located on the short (p) arm of chromosome 6 at position 25.3. More precisely, the FARS2 gene is located from base pair 16,518,604 to base pair 16,525,667 on chromosome 6.

See also

• Mitochondrial disease
• Phenylalanine
• tRNA
• Chromosome 6

References

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