QuickView for CARS2 (gene)

Gene Symbol:

CARS2 Homo sapiens

Full name:

cysteinyl-tRNA synthetase 2, mitochondrial

Synonyms:

COXPD27, cysRS, probable cysteine--tRNA ligase, mitochondrial, cysteine tRNA ligase 2, mitochondrial (putative), cysteinyl-tRNA synthetase 2, mitochondrial (putative)

Genomic Location:

Chr 13: 110091760-110156464

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...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Cytogenetic Map:

13q34

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