Aliases for PARS2 Gene
External Ids for PARS2 Gene
Previous GeneCards Identifiers for PARS2 Gene
This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015]
GeneCards Summary for PARS2 Gene
PARS2 (Prolyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with PARS2 include Developmental And Epileptic Encephalopathy 75 and Undetermined Early-Onset Epileptic Encephalopathy. Among its related pathways are tRNA Aminoacylation and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleotide binding and proline-tRNA ligase activity. An important paralog of this gene is TARS2.