Aliases for CARS2 Gene
External Ids for CARS2 Gene
Previous GeneCards Identifiers for CARS2 Gene
This gene encodes a putative member of the class I 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 cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]
GeneCards Summary for CARS2 Gene
CARS2 (Cysteinyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with CARS2 include Combined Oxidative Phosphorylation Deficiency 27 and Atypical Autism. Among its related pathways are Gene Expression and tRNA Aminoacylation. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cysteine-tRNA ligase activity. An important paralog of this gene is CARS.