FARS2
Description
The FARS2 (phenylalanyl-tRNA synthetase 2, mitochondrial) is a protein-coding gene located on chromosome 6.
The FARS2 gene encodes a mitochondrial enzyme that plays a key role in mitochondrial protein synthesis. FARS2, located on chromosome 6, is responsible for attaching phenylalanine to tRNA(Phe), a crucial step in protein production within mitochondria. Mutations in the FARS2 gene are linked to various diseases including Alpers encephalopathy, spastic paraplegia, and infantile epilepsy. Interestingly, FARS2 can also attach a modified form of phenylalanine (m-Tyr) to tRNA(Phe), potentially contributing to the incorporation of damaged amino acids into proteins. This suggests that FARS2 may have a role in managing oxidative stress within mitochondria.
FARS2 is also known as COXPD14, FARS1, HSPC320, PheRS, SPG77, mtPheRS.
Associated Diseases
- Combined oxidative phosphorylation deficiency 14
- Spastic paraplegia 77, autosomal recessive
- Autosomal recessive spastic paraplegia type 77
