Gene Symbol | EARS2 |
Entrez Gene ID | 124454 |
Full Name | glutamyl-tRNA synthetase 2, mitochondrial |
Synonyms | COXPD12,MSE1,gluRS |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a 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 glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]. |
Disorder MIM: | |
Disorder Html: | Combined oxidative phosphorylation deficiency 12, 614924 (3) |