Aliases for FARS2 Gene
External Ids for FARS2 Gene
Previous HGNC Symbols for FARS2 Gene
Previous GeneCards Identifiers for FARS2 Gene
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a phenylalanine-tRNA synthetase (PheRS) localized to the mitochondrion which consists of a single polypeptide chain, unlike the (alpha-beta)2 structure of the prokaryotic and eukaryotic cytoplasmic forms of PheRS. Structure analysis and catalytic properties indicate mitochondrial PheRSs may constitute a class of PheRS distinct from the enzymes found in prokaryotes and in the eukaryotic cytoplasm. [provided by RefSeq, Jul 2008]
GeneCards Summary for FARS2 Gene
FARS2 (Phenylalanyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with FARS2 include combined oxidative phosphorylation deficiency 14 and combined oxidative phosphorylation deficiency. Among its related pathways are Gene Expression and tRNA Aminoacylation. GO annotations related to this gene include magnesium ion binding and phenylalanine-tRNA ligase activity. An important paralog of this gene is FDXACB1.
UniProtKB/Swiss-Prot for FARS2 Gene
Is responsible for the charging of tRNA(Phe) with phenylalanine in mitochondrial translation. To a lesser extent, also catalyzes direct attachment of m-Tyr (an oxidized version of Phe) to tRNA(Phe), thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins.