Phenylalanyl-tRNA synthetase, mitochondrial (FARS2)

Phenylalanyl-tRNA synthetase, mitochondrial (FARS2), is a nuclear-encoded enzyme responsible for charging mitochondrial tRNA^Phe with the amino acid phenylalanine during mitochondrial protein synthesis. It is essential for mitochondrial translation and, consequently, for the production of proteins crucial for mitochondrial respiratory function. FARS2 is a class II aminoacyl-tRNA synthetase that is structurally distinct from its cytoplasmic and prokaryotic counterparts, functioning as a single polypeptide in mitochondria. Mutations in the FARS2 gene cause disorders such as combined oxidative phosphorylation deficiency 14 (COXPD14), spastic paraplegia 77, and infantile-onset epilepsy, all of which are characterized by severe neurologic impairment, developmental delay, and mitochondrial dysfunction. Its importance in mitochondrial translation also links it to overall mitochondrial health and homeostasis. There are no currently approved drugs directly targeting FARS2, and loss-of-function variants are associated with severe disease phenotypes, indicating essentiality for life[1][2][3][4][5][6].

Other names

Phenylalanine--tRNA ligase, mitochondrialFARS1HSPC320PheRSdJ236A3.1mtPheRSphenylalanine tRNA ligase 2, mitochondrialCOXPD14SPG77mitochondrial PHERSphenylalanine translasephenylalanine-tRNA synthetase 1 (mitochondrial)dJ520B18.2