Gene Symbol | AARS2 |
Entrez Gene ID | 57505 |
Full Name | alanyl-tRNA synthetase 2, mitochondrial |
Synonyms | AARSL,COXPD8,LKENP,MT-ALARS,MTALARS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]. |
Disorder MIM: | |
Disorder Html: | Combined oxidative phosphorylation deficiency 8, 614096 (3); Leukoencephalopathy, progressive, with ovarian failure, 615889 (3) |