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) |