CARS2 cysteinyl-tRNA synthetase 2, mitochondrial
Gene ID: 79587, updated on 27-Nov-2024Gene type: protein coding
Also known as: cysRS; COXPD27
- See all available tests in GTR for this gene
- Go to complete Gene record for CARS2
- Go to Variation Viewer for CARS2 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Combined oxidative phosphorylation defect type 27 | See labs |
Genomic context
- Location:
- 13q34
- Sequence:
- Chromosome: 13; NC_000013.11 (110641410..110713522, complement)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CARS2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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