| Gene Symbol | VARS2 |
| Entrez Gene ID | 57176 |
| Full Name | valyl-tRNA synthetase 2, mitochondrial |
| Synonyms | COXPD20,VALRS,VARS2L,VARSL |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]. |
| Disorder MIM: | |
| Disorder Html: | Combined oxidative phosphorylation deficiency 20, 615917 (3) |
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