CARS2, Official Symbol CARS2provided by HGNC Official Full Name cysteinyl-tRNA synthetase 2, mitochondrialprovided by HGNC Primary source HGNC:HGNC:25695 See related Ensembl:ENSG00000134905 MIM:612800; AllianceGenome:HGNC:25695 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as cysRS; COXPD27 Summary 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] Expression Ubiquitous expression in spleen (RPKM 6.3), bone marrow (RPKM 6.0) and 25 other tissues See more Orthologs mouse all