Aliases for FARS2 Gene
External Ids for FARS2 Gene
Previous HGNC Symbols for FARS2 Gene
Previous GeneCards Identifiers for FARS2 Gene
This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
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 Spastic Paraplegia 77, Autosomal Recessive. Among its related pathways are tRNA Aminoacylation and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleotide binding and tRNA binding. An important paralog of this gene is FDXACB1.
UniProtKB/Swiss-Prot Summary 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.