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Gene : CARS2 Homo sapiens

Name  ? cysteinyl-tRNA synthetase 2, mitochondrial Cytological Location  13q34
Brief Description  cysteinyl-tRNA synthetase 2, mitochondrial
Description  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]
  • synonyms:
  • HGNC:25695,
  • OTTHUMG00000017347,
  • cysRS,
  • cysteinyl-tRNA synthetase 2, mitochondrial (putative),
  • COXPD27,
  • FLJ12118,
  • CARS2,
  • uc001vrd.3,
  • BC007220,
  • NM_024537,
  • cysteine tRNA ligase 2, mitochondrial (putative)
  • identifiers:
  • 79587,
  • ENSG00000134905,
  • CARS2

Genome feature

Region: gene ? Length: 72192  
Location: 13:110641410-110713601 reverse strand Cyto location: 13q34


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Disease

1 Diseases

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3753 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results